一名患有面部畸形、尿道下裂和骨骼异常的新生男婴的9号环状染色体。
Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalities.
作者信息
Van Maldergem L, Avni F, Mossay B, Herens C, Verloes A, Gillerot Y
机构信息
Department of Medical Genetics, Institut de Morphologie Pathologique, Loverval.
出版信息
Genet Couns. 1991;2(2):123-7.
PMID:1781957
Abstract
A newborn male presenting with a peculiar appearance, hypertonia, a flexum attitude, hypospadias and skeletal abnormalities was found to bear a r 9 chromosome. A phenotypic distinction between early and late presenting forms is discussed.
摘要
一名表现出特殊外貌、肌张力亢进、屈曲姿势、尿道下裂和骨骼异常的男婴被发现携带一条r9染色体。本文讨论了早期和晚期表现形式之间的表型差异。
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