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Inherited Disorders and Birth Defects

Chromosome 18 syndrome



Is it possible to be misdiagnosed with chromosome 18?


You do not say how the diagnosis was made.

If there is an abnormality with chromosome 18, that is usually found by doing a chromosome analysis on blood, other tissues in the body or on amniotic fluid if a pregnancy is being evaluated.

While no test is absolutely 100% correct - the accuracy of a chromosome analysis is close to 100%. The chromosomes of the person being evaluated are examined under specialized microscopes and a picture is made of the chromosomes (called a karyotype). Laboratories that specialize in doing chromosome analysis are very careful to put in checks along the way so that the chance of misdiagnosing a chromosome problem is extremely low.

If the diagnosis was made by looking at the clinical features of the person with abnormalities, then there could be the potential of a misdiagnosis. However, when doctors suspect that the problems they see are due to a chromosome analysis, they should always order a chromosome analysis to confirm their diagnosis.

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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