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Friday, May 24, 2013
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NetWellness is a global, community service providing quality, unbiased health information from our partner university faculty. NetWellness is commercial-free and does not accept advertising.
Friday, May 24, 2013
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Inherited Disorders and Birth Defects |
Chromosome 4 missing06/15/2007 |
My 3 week old niece has just been diagnosed as having chromosome 4 missing, apparently a very rare condition. Early hearing tests have shown that she is deaf; can you tell us if there are any other problems she might face?
Most likely the problem is that your niece is missing a part of one of her chromosome 4. I do not know of babies being born that are missing an entire chromosome 4 - those pregnancies would miscarry.
The type of problems you niece may have will depend on what piece of chromosome 4 is missing and how much is missing. In general, babies with a deletion (missing a part) of chromosome 4 have problems in growth - are usually small, often have small heads, may have hypotonia - their muscle tone is very low, can have deafness or other congenital problems such as a congenital heart defect or other birth defect.
Most children with a missing part of a chromosome including chromosome 4 have mental retardation. The extent of the mental retardation (how severe it is) is variable and depends on the individual child.
I would recommend that your cousin talk to a geneticist or genetic counselor to obtain specific information about this chromosome abnormality. They should be very helpful. He or she can locate a genetics center by contacting the National Society of Genetic Counselors Resource Link at the web site below.
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Anne Matthews, RN, PhD Associate Professor of Genetics School of Medicine Case Western Reserve University |
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