Tuesday, March 1, 2011

Turner Syndrome


Turner syndrome, with a karyotype of 45 autosomal chromosomes plus an X, is the only monosomy that still make life possible. However, 98% of fetuses with this syndrome experience spontaneous abortion. Some who survive have a clear appearance of women and is characterized by the absence of ovaries (gonadal dysgenesis) and short stature. Another abnormality is often found winged neck, lymphoedema limb bone abnormalities, and chest width apart with the nipple. About 55% of women affected are monosomik for X and negative chromatin body as nondisjunction. In 80% of the women, the cause is nondisjunction in male gametes. In the remaining women, the causes are structural abnormalities of chromosomes X or causing mitotic nondisjunction mosaicism.

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