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Inherited Disorders and Birth Defects

Chromosome 4 missing



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.

Related Resources:

National Society of Genetic Counselors Resource Center

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Response by:

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