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A girl with an end-to-end fusion of two X'S.

作者信息

Stoll C, Lausecker C, Pennerath A

出版信息

Eur J Pediatr. 1979 May 18;131(2):141-5. doi: 10.1007/BF00447477.

Abstract

An abnormal large chromosome was seen in the karyotype of a 3-year-old girl with features of Turner's syndrome: i.e., short stature, cubitus valgus, coarctation of aorta. With the banding technics this abnormal chromosome appears to be the result of a fusion of two X chromosomes, short arm-to-short arm. This chromosome has two regions with C-heterochromatin and is late replicating.

摘要

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