tag:blogger.com,1999:blog-24958100775722632952024-03-05T08:04:30.331-05:00Revolution in the field of Fragile X diagnosisPadminihttp://www.blogger.com/profile/05529973221501754722noreply@blogger.comBlogger9125tag:blogger.com,1999:blog-2495810077572263295.post-78318270519185677732012-06-19T08:02:00.002-04:002012-06-19T08:03:20.369-04:00Webinar for Fragile X Kids and their parents..<div dir="ltr" style="text-align: left;" trbidi="on">
<span style="background-color: #0b5394; color: white;">Dear Friends!!!!</span><br />
<span style="background-color: #0b5394; color: white;"><br /></span><br />
<span style="background-color: #0b5394; color: white;">Today I am here to update you with the activities going in India for Fragile X kids and their parents.</span><br />
<span style="background-color: #0b5394; color: white;">On 20th June there is a Webinar sponsored by Asuragen, a US based company, where <strong style="border: 0px; font-family: 'Trebuchet MS', Arial, Helvetica, sans-serif; font-size: 13px; line-height: 22px; margin: 0px; outline: 0px; padding: 0px; text-align: -webkit-auto; vertical-align: top;">Dr. Liz Berry-Kravis, </strong><span style="font-family: 'Trebuchet MS', Arial, Helvetica, sans-serif; font-size: 13px; line-height: 22px; text-align: -webkit-auto;">Director of Molecular Laboratory, </span><span style="font-family: 'Trebuchet MS', Arial, Helvetica, sans-serif; font-size: 13px; line-height: 22px; text-align: -webkit-auto;">Rush-Presbyterian, St Lukes’ Medical Center, is going to disscuss about </span><span style="font-family: 'Trebuchet MS', Arial, Helvetica, sans-serif; font-size: 13px; line-height: 22px; text-align: -webkit-auto;">"Reclassification of</span><span style="font-family: 'Trebuchet MS', Arial, Helvetica, sans-serif; font-size: 13px; line-height: 22px; text-align: -webkit-auto;"> </span><em style="border: 0px; font-family: 'Trebuchet MS', Arial, Helvetica, sans-serif; font-size: 13px; line-height: 22px; margin: 0px; outline: 0px; padding: 0px; text-align: -webkit-auto; vertical-align: top;">FMR1</em><span style="font-family: 'Trebuchet MS', Arial, Helvetica, sans-serif; font-size: 13px; line-height: 22px; text-align: -webkit-auto;"> </span><span style="font-family: 'Trebuchet MS', Arial, Helvetica, sans-serif; font-size: 13px; line-height: 22px; text-align: -webkit-auto;">expansion risk: The role of AGG Interruptions". For more details you can go the the link---</span><a href="http://www.nomoresouthernblots.com/AGG_Interruptions.aspx">http://www.nomoresouthernblots.com/AGG_Interruptions.aspx</a></span><br />
<span style="background-color: #0b5394; color: white;"><br /></span><br />
<span style="background-color: #0b5394; color: white;">I wish this webinar can literate the people who are unaware about this Fragile X related fact, and hope that you will spread this news as much as you can...</span><br />
<span style="background-color: #0b5394; color: white;"><br /></span><br />
<span style="background-color: #0b5394; color: white;">Hope to see you in webinar tomorrow.....</span><br />
<span style="background-color: #0b5394; color: white;"><br /></span><br />
<span style="background-color: #0b5394; color: white;">Cheers!!!!!!!!</span></div>Padminihttp://www.blogger.com/profile/05529973221501754722noreply@blogger.com0tag:blogger.com,1999:blog-2495810077572263295.post-7657453598489034182012-05-21T05:56:00.000-04:002012-05-21T05:56:37.618-04:00basic information for Fragile x in Hindi<div dir="ltr" style="text-align: left;" trbidi="on">
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEj_HMHIFeoMz1iFtqXrRuxanhnAxZIfwllfzxr07DUOkAWv6fmHMI1SGg7xvLGIZoVvnaHCRe2MtnHqHyWIw6FK8wKzUTdQ8znWxrM9fB1itwS4QIR4IbHmE8GkUZU8cNoJ5Rp1nUYSQx8j/s1600/Fragile_X_patient_information+_3__Page_1.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" height="640" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEj_HMHIFeoMz1iFtqXrRuxanhnAxZIfwllfzxr07DUOkAWv6fmHMI1SGg7xvLGIZoVvnaHCRe2MtnHqHyWIw6FK8wKzUTdQ8znWxrM9fB1itwS4QIR4IbHmE8GkUZU8cNoJ5Rp1nUYSQx8j/s640/Fragile_X_patient_information+_3__Page_1.jpg" width="492" /></a></div>
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<br /></div>Padminihttp://www.blogger.com/profile/05529973221501754722noreply@blogger.com2tag:blogger.com,1999:blog-2495810077572263295.post-78370668038362098262012-05-18T07:56:00.002-04:002012-05-18T07:57:21.565-04:00Save child & their future<div dir="ltr" style="text-align: left;" trbidi="on">
<span style="background-color: #0b5394;">Good evening friend!!!</span><br />
<span style="background-color: #0b5394;">Today was very hectic...what about yours???</span><br />
<span style="background-color: #0b5394;"><br /></span><br />
<span style="background-color: #0b5394;">I got one document prepar<span style="font-family: Times, 'Times New Roman', serif;">ed by</span> genetics for Fragile x people with all basic information both in Hindi as well as English..</span><br />
<span style="background-color: #0b5394;">good na..SO, i just thought to share that here...</span><br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi56g0TZOvGNoQkTtwPnAha_q-UxSMPM39-xwkC8k_ewZMC3Cvs_hNKU1wLxU0Ppx5-DkdyTHq39G71L3yzqs_7ndPtrWhgRRi4wgZf1ncw4-0rOR2bxy0-e_GjpRqpRNKVQKwjptS0Ursd/s1600/2759479008_69f41f6cec.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi56g0TZOvGNoQkTtwPnAha_q-UxSMPM39-xwkC8k_ewZMC3Cvs_hNKU1wLxU0Ppx5-DkdyTHq39G71L3yzqs_7ndPtrWhgRRi4wgZf1ncw4-0rOR2bxy0-e_GjpRqpRNKVQKwjptS0Ursd/s320/2759479008_69f41f6cec.jpg" width="320" /></a></div>
<span style="background-color: #0b5394;">Save children, their childhood and their future by reading it and sharing it!!!!!!!!!!!!!!!!!!!</span><br />
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<span style="background-color: #0b5394; font-size: 24pt;"><span style="font-family: Verdana, sans-serif;">Fragile X Syndrome<o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-size: 14pt;"><span style="font-family: Verdana, sans-serif;">What is Fragile X Syndrome? <o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-size: 12pt; line-height: 115%;"><span style="font-family: Verdana, sans-serif;">Fragile X
syndrome is a hereditary condition which causes a wide range of mental
impairment, from mild learning disabilities to severe mental retardation. It is
the most common cause of genetically-inherited mental impairment. In addition
to mental impairment, fragile X syndrome is associated with a number of
physical and behavioral characteristics.<o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-size: 14pt;"><span style="font-family: Verdana, sans-serif;">What are
the Common Symptoms?<o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-size: 12pt; line-height: 115%;"><span style="font-family: Verdana, sans-serif;">Common
parental concerns that might bring such a child to a pediatrician’s attention
include: <o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-family: Verdana, sans-serif;"><span style="font-size: 12pt; line-height: 115%;">·<span style="font-size: 7pt; line-height: normal;">
</span></span><span style="font-size: 12pt; line-height: 115%;">mental impairment, ranging from learning disabilities
to mental retardation <o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-family: Verdana, sans-serif;"><span style="font-size: 12pt; line-height: 115%;">·<span style="font-size: 7pt; line-height: normal;">
</span></span><span style="font-size: 12pt; line-height: 115%;">attention deficit and hyperactivity <o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-family: Verdana, sans-serif;"><span style="font-size: 12pt; line-height: 115%;">·<span style="font-size: 7pt; line-height: normal;">
</span></span><span style="font-size: 12pt; line-height: 115%;">anxiety and unstable mood <o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-family: Verdana, sans-serif;"><span style="font-size: 12pt; line-height: 115%;">·<span style="font-size: 7pt; line-height: normal;">
</span></span><span style="font-size: 12pt; line-height: 115%;">autistic-like behaviors <o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-family: Verdana, sans-serif;"><span style="font-size: 12pt; line-height: 115%;">·<span style="font-size: 7pt; line-height: normal;">
</span></span><span style="font-size: 12pt; line-height: 115%;">long face, large ears, flat feet<o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-family: Verdana, sans-serif;"><span style="font-size: 12pt; line-height: 115%;">·<span style="font-size: 7pt; line-height: normal;">
</span></span><span style="font-size: 12pt; line-height: 115%;">hyperextensible joints, especially fingers <o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-family: Verdana, sans-serif;"><span style="font-size: 12pt; line-height: 115%;">·<span style="font-size: 7pt; line-height: normal;">
</span></span><span style="font-size: 12pt; line-height: 115%;">Seizures (epilepsy) affect about 25% of people with
fragile X <o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-size: 12pt; line-height: 115%;"><span style="font-family: Verdana, sans-serif;">Boys are
typically more severely affected than girls. While most boys have mental
retardation, only one-third to one-half of girls have significant intellectual
impairment; the rest have either normal IQ or learning disabilities. Emotional
and behavioral problems are common in both sexes. <o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-size: 12pt; line-height: 115%;"><span style="font-family: Verdana, sans-serif;">About 20%
of boys with fragile X meet full criteria for autism. Most boys and some girls
have some symptoms of autism, but many tend to be very social and interested in
other people. <o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-size: 14pt;"><span style="font-family: Verdana, sans-serif;">What Causes
Fragile X?<o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-size: 12pt; line-height: 115%;"><span style="font-family: Verdana, sans-serif;">In
1991, scientists discovered the gene (called FMR1) that causes fragile X. In
individuals with Fragile X, a defect in FMR1 (a "full mutation")
shuts the gene down. Like a defective factory, FMR1 cannot manufacture the
protein that it normally makes. Other individuals are carriers: they have a
small defect in FMR1 (called a "premutation") but do not show
symptoms.<o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-size: 12pt; line-height: 115%;"><span style="font-family: Verdana, sans-serif;">The
FMR1 gene is located on the long arm of the X chromosome. Within this gene lies
a region of DNA which varies in length from one person to another. Ordinarily,
this stretch of DNA falls within a range of length that would be considered
"normal".<o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-size: 12pt; line-height: 115%;"><span style="font-family: Verdana, sans-serif;">In
some people, however, this stretch of DNA is somewhat longer; this gene change
is called a "premutation". Although a person who carries the
premutation does not typically have symptoms of Fragile X, the stretch of DNA
is prone to further expansion when it is passed from a woman to her children.
When the stretch of DNA expands beyond a certain length, the gene is switched
off and does not produce the protein that it is normally makes. This gene
change is called a "full mutation". <o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-size: 12pt; line-height: 115%;"><span style="font-family: Verdana, sans-serif;">A
male who inherits a full mutation exhibits characteristics of Fragile X
syndrome because his only X chromosome contains the defective gene. A female
may not be as severely affected as a male because each cell of her body needs
to use only one of its two X chromosomes and randomly inactivates the other
(usually the defective X).<o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-size: 14pt;"><span style="font-family: Verdana, sans-serif;">How is Fragile X inherited?<o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-family: Verdana, sans-serif;">Fragile X is
inherited. Males and females carrying a premutation are unaffected. Carrier men
(transmitting males) pass the premutation to all their daughters but none of
their sons. These daughters are unaffected, but are at risk of having affected
offspring. Each child of a carrier woman has a approximately 50% chance of
inheriting the gene. The Fragile X premutation can be passed silently down
through generations in a family before a child is affected by the syndrome and
shows retardation or developmental and learning disabilities.</span></div>
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<span style="background-color: #0b5394; font-size: 12pt; line-height: 115%;"><span style="font-family: Verdana, sans-serif;"> Variable clinical severity is observed in both
sexes. Most, but not all, males with a full mutation are mentally retarded and
show typical physical ant behavioral features. Of females with a full mutation,
approximately one-third are of normal intelligence, one-third are of borderline
intelligence, and one-third are mentally retarded. <o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-size: 14pt;"><span style="font-family: Verdana, sans-serif;">Individuals
for Whom Testing Should Be Considered<o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-family: Verdana, sans-serif;"><span style="font-size: 12pt; line-height: 115%;">·<span style="font-size: 7pt; line-height: normal;">
</span></span><span style="font-size: 12pt; line-height: 115%;">Individuals of either sex with mental retardation,
developmental delay, or autism, especially if they have (a) any physical or
behavioral characteristics of fragile X syndrome, (b) a family history of
fragile X syndrome, or (c) male or female relatives with undiagnosed mental
retardation. <o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-family: Verdana, sans-serif;"><span style="font-size: 12pt; line-height: 115%;">·<span style="font-size: 7pt; line-height: normal;">
</span></span><span style="font-size: 12pt; line-height: 115%;">Individuals seeking reproductive counselling who have
(a) a family history of fragile X syndrome or (b) a family history of
undiagnosed mental retardation. <o:p></o:p></span></span></div>
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<b><span style="background-color: #0b5394; font-size: 14pt;"><span style="font-family: Verdana, sans-serif;">What are the
health risks if a woman is identified to be a premutation carrier?<o:p></o:p></span></span></b></div>
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<span style="background-color: #0b5394; font-family: Verdana, sans-serif;"><span style="font-size: 12pt; line-height: 115%;">·<span style="font-size: 7pt; line-height: normal;">
</span></span><span style="font-size: 12pt; line-height: 115%;">Women with the premutation have up to a 50% chance of
having a child with the FXS mutation.<o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-family: Verdana, sans-serif;"><span style="font-size: 12pt; line-height: 115%;">·<span style="font-size: 7pt; line-height: normal;">
</span></span><span style="font-size: 12pt; line-height: 115%;">Approximately 16% of women with the fragile X
premutation will go through menopause before the age of 40, a condition known
as fragile X-associated primary ovarian insufficiency (FXPOI).<o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-family: Verdana, sans-serif;"><span style="font-size: 12pt; line-height: 115%;">·<span style="font-size: 7pt; line-height: normal;">
</span></span><span style="font-size: 12pt; line-height: 115%;">There is a small risk for developing Fragile X
Tremor/Ataxia Syndrome (FXTAS), a neurological disorder that causes tremors,
balance problems, difficulty walking, and memory problems later in life.<o:p></o:p></span></span></div>
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</span></span><span style="font-size: 12pt; line-height: 115%;">Women with the premutation will often times have other
relatives who have a chance of carrying the fragile X mutation and, as a
result, will also be at risk for similar health risks.<o:p></o:p></span></span></div>
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<span style="background-color: #0b5394; font-size: 12pt; line-height: 115%;"><span style="font-family: Times, 'Times New Roman', serif;">I hope you will like it to share...will post the Hindi version in my next post</span></span></div>
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</div>Padminihttp://www.blogger.com/profile/05529973221501754722noreply@blogger.com0tag:blogger.com,1999:blog-2495810077572263295.post-68385357042409678862012-05-17T04:47:00.000-04:002012-05-17T04:47:42.439-04:00Seminar/Meeting at AIIMS on 19th May<div dir="ltr" style="text-align: left;" trbidi="on">
<div style="background-color: #0b5394; color: white;">
Hi friends,,</div>
<div style="background-color: #0b5394; color: white;">
Me writing after a long gap, was out of station. I had a great fun with family..</div>
<div style="background-color: #0b5394; color: white;">
I am here with one good news for Fragile X patients and their parents or anyone who want to know about different aspects for this genetic disorder..At AIIMS (All India Institute for Medical Sciences) is organizing a seminar/ meetings on 19th May, Saturday for Fragile X patients and their parents where they are inviting all the fragile x patients from the country. In the meeting, all doctors will be present to discuss about different aspects of Fragile X disorders and they will also try to solve different problems of parents while rearing their kids.</div>
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So, its a wonderfull opportunity for all who are very much keen to know about it...</div>
<div style="background-color: #0b5394; color: white;">
hmm, so without any delay I am posting this with the location for meeting.</div>
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<br /></div>
<div style="background-color: #0b5394; color: white;">
Date:- 19th May,2012, Saturday</div>
<div style="background-color: #0b5394; color: white;">
Time:-10:00AM</div>
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Venue:-Lecture Theater No.1 from Gate No.1 of AIIMS building.</div>
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See you there............</div>
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<div style="background-color: #0b5394; color: white;">
Cheers</div>
<div style="background-color: #0b5394;">
<span style="color: white;">Padmini</span></div>
<br /></div>Padminihttp://www.blogger.com/profile/05529973221501754722noreply@blogger.com0tag:blogger.com,1999:blog-2495810077572263295.post-50570864467482715612012-04-30T06:08:00.002-04:002012-04-30T06:08:17.968-04:00<div dir="ltr" style="text-align: left;" trbidi="on">
<br />
<h4 style="text-align: left;">
<span style="background-color: #0b5394;"><span style="color: white;"><span style="font-family: Times, 'Times New Roman', serif;"><span class="babyheaderart" style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; font-style: inherit; font-weight: bold; margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 10px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 0px; padding-right: 0px; padding-top: 3px; vertical-align: baseline;">How is fragile X syndrome inherited? </span></span><span style="font-family: Times, 'Times New Roman', serif;"><span style="font-weight: normal;">Inheritance of fragile X syndrome is complicated. Individuals with a family history of this disorder should consult a genetic counselor to learn more about the risks of passing the disorder to their children.</span></span></span></span><ul style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; line-height: 14px; list-style-image: initial; list-style-position: initial; margin-bottom: 10px; margin-left: 14px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 10px; padding-right: 0px; padding-top: 0px; text-align: left; vertical-align: baseline;">
<li style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; font-style: inherit; margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 0px; padding-right: 0px; padding-top: 0px; vertical-align: baseline;"><span style="color: white; font-family: Times, 'Times New Roman', serif;"><span style="background-color: #0b5394; border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; font-style: inherit; margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 0px; padding-right: 0px; padding-top: 0px; vertical-align: baseline;">Normal number of repeats:</span></span></li>
</ul>
<ul style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; line-height: 14px; list-style-image: initial; list-style-position: initial; margin-bottom: 10px; margin-left: 14px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 10px; padding-right: 0px; padding-top: 0px; text-align: left; vertical-align: baseline;"><span style="background-color: #0b5394; font-weight: normal;"><span style="color: white;"> Individuals with a normal number of repeats (5 to 40) cannot pass fragile X syndrome to their offspring. The number of repeats generally does not change when passed from parent to child.</span></span></ul>
<ul style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; line-height: 14px; list-style-image: initial; list-style-position: initial; margin-bottom: 10px; margin-left: 14px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 10px; padding-right: 0px; padding-top: 0px; text-align: left; vertical-align: baseline;">
<li style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; font-style: inherit; margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 0px; padding-right: 0px; padding-top: 0px; vertical-align: baseline;"><span style="background-color: #0b5394; color: white; font-family: Times, 'Times New Roman', serif;"><span style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; font-style: inherit; margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 0px; padding-right: 0px; padding-top: 0px; vertical-align: baseline;">Intermediate number of repeats</span><span style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; font-style: inherit; font-weight: normal; margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 0px; padding-right: 0px; padding-top: 0px; vertical-align: baseline;">:</span></span></li>
</ul>
<ul style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; line-height: 14px; list-style-image: initial; list-style-position: initial; margin-bottom: 10px; margin-left: 14px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 10px; padding-right: 0px; padding-top: 0px; text-align: left; vertical-align: baseline;"><span style="background-color: #0b5394; font-weight: normal;"><span style="color: white;"> When a person has 41 to 58 repeats (called the gray zone), the number of repeats can sometimes increase slightly when passed from parent to child. These parents are not at risk of having a child with fragile X syndrome. However, the number of repeats can grow with each generation, so their grandchildren could be at risk.</span></span></ul>
<ul style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; line-height: 14px; list-style-image: initial; list-style-position: initial; margin-bottom: 10px; margin-left: 14px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 10px; padding-right: 0px; padding-top: 0px; text-align: left; vertical-align: baseline;">
<li style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; font-style: inherit; margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 0px; padding-right: 0px; padding-top: 0px; vertical-align: baseline;"><span style="color: white; font-family: Times, 'Times New Roman', serif;"><span style="background-color: #0b5394; border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; font-style: inherit; margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 0px; padding-right: 0px; padding-top: 0px; vertical-align: baseline;">Premutation:</span></span></li>
</ul>
<ul style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; line-height: 14px; list-style-image: initial; list-style-position: initial; margin-bottom: 10px; margin-left: 14px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 10px; padding-right: 0px; padding-top: 0px; text-align: left; vertical-align: baseline;"><span style="background-color: #0b5394; font-weight: normal;"><span style="color: white;"> Individuals with 59 to 200 repeats have a premutation (3). Both men and women can be carriers of a premutation. About 1 in 250 women and 1 in 800 men carries a premutation (8). However, only women who carry a premutation are at risk for having a child with fragile X syndrome.</span></span></ul>
<ul style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; line-height: 14px; list-style-image: initial; list-style-position: initial; margin-bottom: 10px; margin-left: 14px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 10px; padding-right: 0px; padding-top: 0px; text-align: left; vertical-align: baseline;"><span style="background-color: #0b5394; color: white; font-family: Times, 'Times New Roman', serif; font-weight: normal;"><br /></span></ul>
<ul style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; line-height: 14px; list-style-image: initial; list-style-position: initial; margin-bottom: 10px; margin-left: 14px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 10px; padding-right: 0px; padding-top: 0px; text-align: left; vertical-align: baseline;"><span style="background-color: #0b5394; color: white; font-family: Times, 'Times New Roman', serif; font-weight: normal;">A mother with a premutation has a 50-percent chance of passing the abnormal gene to her baby in each pregnancy. Some children who inherit the abnormal gene have a premutation and no symptoms of fragile X syndrome. However, the number of repeats is likely to expand when the gene is passed from mother to child. So the number of repeats can increase from a premutation to a full mutation (more than 200 repeats). Children with a full mutation have fragile X syndrome.</span></ul>
<ul style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; line-height: 14px; list-style-image: initial; list-style-position: initial; margin-bottom: 10px; margin-left: 14px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 10px; padding-right: 0px; padding-top: 0px; text-align: left; vertical-align: baseline;"><span style="background-color: #0b5394; color: white; font-family: Times, 'Times New Roman', serif; font-weight: normal;">A father with a premutation passes it to all of his daughters but to none of his sons. Daughters generally have no symptoms of fragile X syndrome, but they are carriers of a premutation that they can pass on to their own children. Fathers with a premutation do not pass it to their sons because males do not get an X chromosome from their father.</span></ul>
<ul style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; line-height: 14px; list-style-image: initial; list-style-position: initial; margin-bottom: 10px; margin-left: 14px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 10px; padding-right: 0px; padding-top: 0px; text-align: left; vertical-align: baseline;">
<li style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; font-style: inherit; margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 0px; padding-right: 0px; padding-top: 0px; vertical-align: baseline;"><span style="color: white; font-family: Times, 'Times New Roman', serif;"><span style="background-color: #0b5394; border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; font-style: inherit; margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 0px; padding-right: 0px; padding-top: 0px; vertical-align: baseline;">Full mutation:</span></span></li>
</ul>
<ul style="border-bottom-width: 0px; border-color: initial; border-image: initial; border-left-width: 0px; border-right-width: 0px; border-style: initial; border-top-width: 0px; line-height: 14px; list-style-image: initial; list-style-position: initial; margin-bottom: 10px; margin-left: 14px; margin-right: 0px; margin-top: 0px; outline-color: initial; outline-style: initial; outline-width: 0px; padding-bottom: 0px; padding-left: 10px; padding-right: 0px; padding-top: 0px; text-align: left; vertical-align: baseline;"><span style="background-color: #0b5394; font-weight: normal;"><span style="color: white;"> Individuals with more than 200 repeats have a full mutation. A woman with a full mutation has a 50-percent chance of passing it to her baby in each pregnancy. Men with a full mutation generally do not reproduce.</span></span></ul>
</h4>
</div>Padminihttp://www.blogger.com/profile/05529973221501754722noreply@blogger.com3tag:blogger.com,1999:blog-2495810077572263295.post-12511650869437964462012-04-26T06:45:00.004-04:002012-04-26T07:39:57.966-04:00<div dir="ltr" style="text-align: left;" trbidi="on">
<span style="background-color: #0b5394;"><span style="color: white;">Happy Thursday to all!!!!!</span></span><br />
<span style="background-color: #0b5394;"><span style="color: white;">hows life going?? I am posting after a gap..but today I am with a great information for all, who are searching information regarding Fragile X diagnosis for their kids, would be mothers or any relatives...We are referring the centers who are using Amplidex PCR Based Fragile X Diagnosis Kit developed by a team of <a href="http://www.asuragen.com/Diagnostics/US/Products/FragileX/FragileX.aspx">ASURAGEN</a>. It is having many advantages over other home brew test and Southern Blots test for <a href="http://www.asuragen.com/pdfs/posters/G52%203500-0336%20AMP11%20POSTER%20Beyond%20Southern%20Blo.pdf">Fragile X</a>. </span></span><br />
<span style="background-color: #0b5394;"><span style="color: white;">In Indian 4 centers are using this--</span></span><br />
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<span style="background-color: #0b5394; color: white;"><span style="font-family: Arial, sans-serif;">1] Dr. Madhulika Kabra </span><a href="http://www.aiims.ac.in/aiims/departments/pediatrics/genetics.htm" target="_blank"><span style="font-family: Arial, sans-serif;">http://www.aiims.ac.in/<wbr></wbr>aiims/departments/pediatrics/<wbr></wbr>genetics.htm</span></a><span style="font-family: Arial, sans-serif;"><br /><br />2] Dr. Parag Tamhankar, </span><a href="http://www.nirrh.res.in/centres/GRC/projects.htm" target="_blank"><span style="font-family: Arial, sans-serif;">http://www.nirrh.<wbr></wbr>res.in/centres/GRC/projects.<wbr></wbr>htm</span></a><span style="font-family: Arial, sans-serif;"><br /><br />3] Dr. Jayanthi Undmatla, </span><a href="http://sandor.co.in/pro-diagnostics.html" target="_blank"><span style="font-family: Arial, sans-serif;">http://sandor.co.in/<wbr></wbr>pro-diagnostics.html</span></a> </span></div>
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<span style="background-color: #0b5394; color: white;"><span style="font-family: Arial, sans-serif;">4) Dr Renu Saxena,</span> <span style="font-family: Arial, sans-serif;"><a href="http://www.sgrh.com/search/details.aspx?id=55" target="_blank">http://www.sgrh.com/<wbr></wbr>search/details.aspx?id=55</a> </span></span></div>
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<span style="background-color: #0b5394;"><span style="color: white;"><span style="font-family: Arial, sans-serif;">A good new for those, who cannot afford the cost, </span>NIRRH (ICMR) centre, Mumbai, now they are offering the test free of cost for the sampleswhich are positive based on clinical, pedigree analysis, based on cytogenetic tests etc. They will provide you the finer details of the patients which only Amplidex PCR assay can provide.</span></span></div>
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<span style="background-color: #0b5394;"><span style="color: white;"><span style="font-family: arial, sans-serif;">So, it will be very beneficial to your patients.</span><span lang="EN-IN" style="font-family: Calibri; font-size: 11pt; line-height: 17px;"><a href="http://www.appliedbioscience.com/docs/ASGN/FragileX_case_record_form.doc" target="_blank">http://www.appliedbioscience.<wbr></wbr>com/docs/ASGN/FragileX_case_<wbr></wbr>record_form.doc</a></span></span></span></div>
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<span style="background-color: #0b5394; color: white; font-family: arial, sans-serif;">Here you can download the "Fragile X case record form" which is to be sent along with the samples.</span></div>
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<span style="background-color: #0b5394; color: white; font-family: arial, sans-serif;">If you want any information or any kind of help, please don't hesitate, call me on 022-29660575, or mail me on sales@appliedbioscience.com..</span></div>
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjJctTTYbpEjdOkO9WSY7QOQ_HfR2EeVaNUmekZRFnjqgpsA_CBhL4C-obgt57qXDvrL0W3kIayn2pNmdyLp4K4JSPtsYglwBbiotF-Jnn49D-uxtECVKv8FPyTbDiZHBHhR5iGEQC4I34v/s1600/pictures-of-happy-face14.jpg" imageanchor="1" style="background-color: #0b5394; margin-left: 1em; margin-right: 1em;"><span style="color: white;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjJctTTYbpEjdOkO9WSY7QOQ_HfR2EeVaNUmekZRFnjqgpsA_CBhL4C-obgt57qXDvrL0W3kIayn2pNmdyLp4K4JSPtsYglwBbiotF-Jnn49D-uxtECVKv8FPyTbDiZHBHhR5iGEQC4I34v/s320/pictures-of-happy-face14.jpg" width="213" /></span></a></div>
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<br /></div>Padminihttp://www.blogger.com/profile/05529973221501754722noreply@blogger.com0tag:blogger.com,1999:blog-2495810077572263295.post-40896811265377210992012-04-23T00:44:00.000-04:002012-04-23T00:44:20.608-04:00<div dir="ltr" style="text-align: left;" trbidi="on">
<span style="background-color: #0b5394;"><span style="color: white;">To day I am going to write a case about which I got to know from one government research center in India. They got one case of Fragile X kid, whose mother was a carrier but the couple was not aware of that. When they observe something abnormal in their first kid, they planned for their second kid (at that time the first kid was 2 years and 4 months old). Mother found herself unable to conceive and after testing they got to know about Fragile X. But it was too late, they tried for egg donor and after 2 trails, they had a miracle of 1 normal kid.</span></span><br />
<span style="background-color: #0b5394;"><span style="color: white;">We can learn from this example, and spread the awareness to wards Fragile X syndrome and its testing. Sometimes cost should not be the concern when it is about your babies...isn't it, but still here in India, a lot to be done in this regard. Couples, if they go for genetic testing (rare), they just want the screening...whether they are positive or negative and not the details. they don' know that the details may affect the risk of expansion in next generation........so friends....spread this...share this with your friends, families, colleagues and take active participation in revolution of Fragile X Diagnosis...</span></span><br />
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<span style="background-color: #0b5394;"><span style="color: white;">Have a Nice Week!!!!!!!!!!!!!!!!</span></span><br />
.</div>Padminihttp://www.blogger.com/profile/05529973221501754722noreply@blogger.com0tag:blogger.com,1999:blog-2495810077572263295.post-28961665640661722182012-04-21T22:52:00.001-04:002012-04-21T22:52:41.737-04:00<div dir="ltr" style="text-align: left;" trbidi="on">
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<br style="font-family: Arial,Helvetica,sans-serif;" /><span style="background-color: #3d85c6; font-family: Arial,Helvetica,sans-serif;"><span style="color: white;">Hii, all !!!!!!!!, very sad, nobody yet posted any comment on my very first post...while reading about Fragile X, one question stroke in my mind---mothers with no knowledge of fragile X will may have many questions in their mind before and after their genetic test...so, today I am posting some Questions which may come to your mind and their answers...<br /><br />Q.1 What is my risk of being a fragile X carrier? <br />About 1 in 200 women is a fragile X carrier. Your chances of being a fragile X carrier may be much higher depending on your family history. If you have a family history of fragile X syndrome or of intellectual disability from an unknown cause, you are more likely to be a fragile X carrier.<br /><br />Men can also be fragile X carriers, but it's usually only when the woman is the carrier that the children get full fragile X syndrome.<br /><br /><br />Q.2 Should you or your future child be tested for fragile X? <br />If you are pregnant and a fragile X carrier, you may want to have a prenatal test for fragile X syndrome. Fragile X testing also should be considered for anyone who has a chromosome test that shows fragile X. The chromosome test is no longer performed routinely, but if someone in your family was positive for this test in the past, that family member should consider DNA testing to confirm the results.<br /><br /><br />Q.3 Should a child with intellectual disability be tested for fragile X?<br />Fragile X testing should be considered for any child who has been diagnosed with intellectual disability, developmental delay or autism. This is especially true if there is a family history of fragile X or some other form of intellectual disability from an unknown cause, or if the child has any physical features that would suggest fragile X syndrome.<br /><br /><br />Q.4 If I have the fragile X gene, can I have children who don't have it?<br />If you are a woman carrying a fragile X pre-mutation, you have a 50% chance of passing on the affected gene to each child you have. If you are a man with a pre-mutation, you will pass it on to your daughters, but not your sons. In the unlikely event that both parents carry a pre-mutation, the chances of getting a changed gene are 100% for their daughters and 50% for their sons.<br /><br /><br />Q.5 While I'm pregnant, can I determine the risk my baby has of developing fragile X? <br />To discover whether your unborn child has inherited changes in the fragile X gene, you and your partner can get prenatal testing. Prenatal DNA testing is available if you have a family history of fragile X or of unexplained intellectual disability. There are two common ways of obtaining DNA from fetal cells:<br /><br /> 1. Chorionic villus sampling is performed early in the pregnancy — between 10 and 13 weeks. A physician takes a sample of chorionic villus cells from part of the placenta that contains fetal cells.<br /> 2. Amniocentesis is performed after 15 weeks. The physician obtains fetal cells from the amniotic fluid that surrounds the fetus.<br /><br />You can also get tested before a pregnancy using preimplantation genetic diagnosis (PGD). PGD is done by in vitro fertilization (IVF). Each fertilized embryo is tested to see if it has the fragile X mutation. Only the embryos without a mutation are implanted into the mother.<br /><br />Talk with your obstetrician or a genetic counselor about your options.<br /><br /><br />Q.6 If I am a fragile X carrier, could I give birth to a girl with the disease? <br />There is a 100% chance a male pre-mutation carrier would pass on the gene, but his daughter would only be a carrier and not have the disease. There is a 50% chance that a female pre-mutation carrier will pass the expanded gene on to her daughter. If the number of repeats stays the same, the daughter also will be a pre-mutation carrier. If the number of repeats increases to the more than 200, then the daughter might be affected. Also, a girl with a full mutation might have symptoms of fragile X, including intellectual disability, but symptoms are less severe in girls because they have an extra X chromosome to fall back on.<br /><br /><br />Q.7 If I DON'T have the fragile X gene, can I have children who DO have the gene?<br />If you're not a carrier, then your children cannot inherit the gene from you. But there is always the possibility that the number of repeats in the gene could increase from one generation to the next. We all have some repeats in the FMR1 gene. It would be very unusual, however, for the gene to expand from a normal number of repeats to a full mutation in one generation.<br /><br /><br />Q.8 Is there any harm in finding out if I am a carrier? <br />Possibly. You may feel upset if you learn that you carry a gene that could potentially cause intellectual disability in your future children. However, it is important to note that carriers generally have normal intellectual abilities and normal appearance.</span></span><br />
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<span style="background-color: #3d85c6; font-family: Arial,Helvetica,sans-serif;"><span style="color: white;">Well, i tried to cover up all probable questions, but if you have any , feel free to ask me here, and I'll also try to post some more,,,,,,,byeeee have a nice weekend.....:-) </span></span></div>Padminihttp://www.blogger.com/profile/05529973221501754722noreply@blogger.com0tag:blogger.com,1999:blog-2495810077572263295.post-39859536743379851972012-04-20T08:10:00.000-04:002012-04-20T08:10:03.625-04:00<div dir="ltr" style="text-align: left;" trbidi="on">
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<span style="background-color: #0b5394;"><span style="font-family: 'trebuchet ms', verdana, arial, sans-serif; font-size: 13px; line-height: 18px; text-align: -webkit-auto;">Hii friends!!!!!!!, I am new here and very much surprised and happy to read all the blogs. Here, many have shared their happy & sad stories of their own experiences. I too have one to share with all of you.</span><br style="font-family: 'trebuchet ms', verdana, arial, sans-serif; font-size: 13px; line-height: 18px; text-align: -webkit-auto;" /><span style="font-family: 'trebuchet ms', verdana, arial, sans-serif; font-size: 13px; line-height: 18px; text-align: -webkit-auto;">I am Indian, the country of many religions, languages, festivals and many more. It has many unique things which other countries do not have, but have Fragile X syndrome as all other countries. </span></span><br />
<span style="background-color: #0b5394; font-family: 'trebuchet ms', verdana, arial, sans-serif; font-size: 13px; line-height: 18px; text-align: -webkit-auto;"><br /></span><br />
<span style="background-color: #0b5394; font-family: 'trebuchet ms', verdana, arial, sans-serif; font-size: 13px; line-height: 18px; text-align: -webkit-auto;">The Fragile X syndrome is caused by a "fragile" site at the end of the long arm of the X-chromosome. It is a genetic disorder that manifests itself through a complex range of behavioural and cognitive phenotypes and is directly related to developmental disorders or delays, the signs for the disease are recognized when the child shows reluctance or inability to meet the developmental milestones as he grows up.It is the result of genetic mutation which varies considerably in severity among patients. </span><br />
<span style="background-color: #0b5394; font-family: 'trebuchet ms', verdana, arial, sans-serif; font-size: 13px; line-height: 18px; text-align: -webkit-auto;">Fragile X syndrome is the most common cause of inherited mental retardation. Although it is a X-linked recessive trait with variable expression and incomplete penetrance, 30% of all carrier women are affected. </span><br />
<span style="background-color: #0b5394; font-family: 'trebuchet ms', verdana, arial, sans-serif; font-size: 13px; line-height: 18px; text-align: -webkit-auto;"> </span><br />
<span style="background-color: #0b5394; font-family: 'trebuchet ms', verdana, arial, sans-serif; font-size: 13px; line-height: 18px; text-align: -webkit-auto;">The diagnosis of Fragile-X syndrome is made through the detection of errors in the FMR1 gene. Over 99% of individuals have a full mutant FMR1 gene. Tests used for diagnosis include chromosome analysis and various protein tests. Diagnosis is usually made when young, and there is no current cure for this illness. Early diagnosis of the syndrome call allow for therapeutic interventions like speech therapy, occupational therapy, psychotherapy and special education, that can considerably improve the quality of the patients' life.</span><br />
<span style="background-color: #0b5394; font-family: 'trebuchet ms', verdana, arial, sans-serif; font-size: 13px; line-height: 18px; text-align: -webkit-auto;"><br /></span><br />
<span style="background-color: #0b5394; font-family: 'trebuchet ms', verdana, arial, sans-serif; font-size: 13px; line-height: 18px; text-align: -webkit-auto;">As, in current scenario, we don't have any cure, I should suggest would be mothers to go for genetic testings. If you are pregnant and a fragile X carrier, you may have a child with the same syndrome after his/her birth. If you are a woman carrying a fragile X pre-mutation, you have a 50% chance of passing on the affected gene to each child you have. If you are a man with a pre-mutation, you will pass it on to your daughters, but not your sons. In the unlikely event that both parents carry a pre-mutation, the chances of getting a changed gene are 100% for their daughters and 50% for their sons. To discover whether your unborn child has inherited changes in the fragile X gene, you and your partner can get prenatal testing. Prenatal DNA testing is available if you have a family history of fragile X or of unexplained intellectual disability. There are two common ways of obtaining DNA from fetal cells....I think is is suffieicent for the day...will come back with more helpfull facts and information for this blog readers....</span> </div>Padminihttp://www.blogger.com/profile/05529973221501754722noreply@blogger.com0India20.593684 78.9628800000000416.213675 64.346295500000039 34.973693 93.579464500000043