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

Zeitschrift für Kinderheilkunde - Tập 131 - Trang 141-145 - 1979
C. Stoll1, Ch. Lausecker2, A. Pennerath2
1Laboratoire de cytogénétique de la Clinique Infantile, CHU, Strasbourg
2Service de Pédiatrie A, Hôpital Pasteur, F-Colmar, France

Tóm tắt

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.

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