Follow by Email

Tuesday, 19 June, 2012

Webinar for Fragile X Kids and their parents..

Dear Friends!!!!

Today I am here to update you with the activities going in India for Fragile X kids and their parents.
On 20th June there is a Webinar sponsored by Asuragen, a US based company, where Dr. Liz Berry-Kravis, Director of Molecular Laboratory, Rush-Presbyterian, St Lukes’ Medical Center, is going to disscuss about "Reclassification of FMR1 expansion risk: The role of AGG Interruptions". For more details you can go the the link---

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...

Hope to see you in webinar tomorrow.....


Friday, 18 May, 2012

Save child & their future

Good evening friend!!!
Today was very hectic...what about yours???

I got one document prepared by genetics for Fragile x people with all basic information both in Hindi as well as English..
good na..SO, i just thought to share that here...
Save children, their childhood and their future by reading it and sharing it!!!!!!!!!!!!!!!!!!!

Fragile X Syndrome

What is Fragile X Syndrome?

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.

What are the Common Symptoms?

Common parental concerns that might bring such a child to a pediatrician’s attention include:
·        mental impairment, ranging from learning disabilities to mental retardation
·        attention deficit and hyperactivity
·        anxiety and unstable mood
·        autistic-like behaviors
·        long face, large ears, flat feet
·        hyperextensible joints, especially fingers
·        Seizures (epilepsy) affect about 25% of people with fragile X
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.
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.
What Causes Fragile X?

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.
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".
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".
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).

How is Fragile X inherited?

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.
 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.

Individuals for Whom Testing Should Be Considered

·        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.
·        Individuals seeking reproductive counselling who have (a) a family history of fragile X syndrome or (b) a family history of undiagnosed mental retardation.

What are the health risks if a woman is identified to be a premutation carrier?

·        Women with the premutation have up to a 50% chance of having a child with the FXS mutation.
·        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).
·        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.
·        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.

I hope you will like it to share...will post the Hindi version in my next post

Thursday, 17 May, 2012

Seminar/Meeting at AIIMS on 19th May

Hi friends,,
Me writing after a long gap, was out of station. I had a great fun with family..
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.
So, its a wonderfull opportunity for all who are very much keen to know about it...
hmm, so without any delay I am posting this with the location for meeting.

Date:- 19th May,2012, Saturday
Venue:-Lecture Theater No.1 from Gate No.1 of AIIMS building.

See you there............


Monday, 30 April, 2012

How is fragile X syndrome inherited? 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.
  • Normal number of repeats:
     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.
  • Intermediate number of repeats:
     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.
  • Premutation:
     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.

    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.
    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.
  • Full mutation:
     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.

Thursday, 26 April, 2012

Happy Thursday to all!!!!!
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 ASURAGEN. It is having many advantages over other home brew test and Southern Blots test for Fragile X
In Indian 4 centers are using this--

A good new for those, who cannot afford the cost, 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.
So, it will be very beneficial to your patients.
Here you can download the "Fragile X case record form" which is to be sent along with the samples.

If you want any information or any kind of help, please don't hesitate, call me on 022-29660575, or mail me on

Monday, 23 April, 2012

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.
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 friends....spread this...share this with your friends, families, colleagues and take active participation in revolution of Fragile X Diagnosis...

Have a Nice Week!!!!!!!!!!!!!!!!