numerical autosomal disorders
A DEFINITION OR A SHORT CHARACTERIZATION
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Answer:
A single abnormal gene on one of the first 22 nonsex (autosomal) chromosomes from either parent can cause an autosomal disorder. Dominant inheritance means an abnormal gene from one parent can cause disease. This happens even when the matching gene from the other parent is normal. The abnormal gene dominates.
Hi dear,
Disorders of the autosomes are much more frequent that disorders of the sex chromosomes (Klinefelter syndrome, Turner syndrome). Typical are numeric abnormalities and we then recognize two types of disorders:
monosomy – the carrier lost one copy of a chromosome (45,XY);
trisomy – there are one more copy of a chromosome (47,XY).
Althought the trisomies of chromosomes 18 and 13 were discovered early, there is another trisomy which occurs most – trisomy 21 (Down syndrome).
There are also structural disorders of the automosomes. The most important are deletions. Very well known are deletion of short arm of 5 chromosome (Cri du chat syndrome) and deletion of long arm of 22 chromosome (DiGeorge syndrome.