9号染色体三体镶嵌型并伴有多种先天性异常。
Trisomy 9 mosaicism with multiple congenital anomalies.
作者信息
Haslam R H, Broske S P, Moore C M, Thomas G H, Neill C A
出版信息
J Med Genet. 1973 Jun;10(2):180-4. doi: 10.1136/jmg.10.2.180.
Abstract
A nine-year-old male with developmental abnormalities was found to be mosaic for an extra No. 9 chromosome (46,XY/47,XY,+9). The clinical findings included severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition with a ventricular septal defect, and patent ductus arteriosus, as well as significant abnormalities of the brain.
摘要
一名9岁男性发育异常，被发现为9号染色体三体性嵌合体（46,XY/47,XY,+9）。临床表现包括严重智力发育迟缓、特殊面容、身材矮小、肌张力低下、右旋心伴室间隔缺损及动脉导管未闭，以及脑部明显异常。
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