Sex differences in hereditary disorders
The other major type of
chromosomal abnormality is the hereditary type.
One or several genes can be mutant on any chromosome. When the disease-producing (pathogenic) gene
is on any of the first 22 chromosome pairs,
the disorder is termed autosomal (having to do with the self). When the mutant gene or group of genes is
situated on one of the chromosomes of the 23rd pair (on the X or Y
chromosome) the mode of transmission is
termed gonosomal (having to do with one's gender). In a sense the term gonosomal is a misnomer
because the X gonosome is responsible for many other things besides gender. The Y chromosome, on the other hand, is not
very important, aside from the
determination of maleness, and can be dispensed with entirely (Turner
syndrome). When the mutant gene is
situated on chromosome X, it will affect
male offspring more than it does female offspring. This is because the second X chromosome of
females is able to inhibit the effect of the pathogenic gene. An X-linked hereditary disease is
transmitted from mother to son. It
usually affects all the daughters of an affected father, but it affects the
daughters subclinically (below the threshold of diagnosis) more often than it
does the sons. Diseases which are X
linked and well known include hemophilia,
daltonism, Duchene's muscular
dystrophy.
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