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Inherited Disorders and Birth Defects

7th chromosome disorder

06/25/2007

Question:

Our son has 7th chromosome disorder, results is: probe hybridization showed the signal only on one of the chromosome 7 at 7q11.23 region (red) in all the metaphases analyzed. Now he is 2 years. He has a cardiac problem, delayed development. He doesn’t speak yet. We don’t when will he speak. We already have consulted a cardiologist and neurologist.

We want to know is there any treatment for him to become a normal child!!! Stem cells, cordblood are recent success in medical history. We don’t have any idea about this. Any treatment for my child’s problem…please help us.

Answer:

I believe the chromosome problem you are describing is Williams syndrome (WS) - this is a deletion of part of chromosome 7 at 7q11.2 - that is, your son is missing a part of one of his chromosome #7.

People with Williams syndrome often have heart problems, characteristic facial appearance, a unique personality - usually overly friendly, delays in development, and some degree of mental retardation and learning disabilities. These problems are caused by the loss of a very small part of chromosome #7. One of the major genes that are affected is the elastin gene. This gene makes a protein that helps with blood vessel strength and stretchiness. Other genes are also affected.

There is no cure for Williams syndrome. And unfortunately, stem cells or cord blood is not known to be helpful. Because WS is rare - it affects about 1 in 7,500 people - and complex, multidisciplinary clinics are often helpful and there are several centers in the United States. Treatment for people with WS is based on each person's specific problems - so families work with the cardiologist, the neurologist and other specialists as you have done.

I would recommend that you talk to a geneticist or genetic counselor to discuss this diagnosis in detail. You can locate one near you at the National Society of Genetic Counselors' Resource web site listed below. Additionally you will find a great deal of information at the Williams Syndrome Association web site, also listed below.

Related Resources:

National Society of Genetic Counselors Resource Center
Williams Syndrome Association

For more information:

Go to the Inherited Disorders and Birth Defects health topic, where you can:

Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University