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Cat eye syndrome : ウィキペディア英語版
Cat eye syndrome

Cat eye syndrome (CES), or Schmid–Fraccaro syndrome, is a rare condition caused by the short arm (p) and a small section of the long arm (q) of human Chromosome 22 being present three (trisomic) or four times (tetrasomic)(usually 3 times) instead of the usual two times. The term "Cat Eye" syndrome was coined because of the particular appearance of the vertical colobomas in the eyes of some patients. However, over half of the CES patients in the literature do not present with this trait. There is no significant reduction in life expectancy in patients who are not afflicted with one of CES' life-threatening abnormalities.
==Genetics==
The additional chromosome 22 usually arises spontaneously. It may be hereditary and parents may be mosaic for the marker chromosome but show no phenotypic symptoms of the syndrome.
The chromosomal area included in the Cat Eye Syndrome "critical region" is 22pter→q11.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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