一名12周胎儿出现17q部分三体及全身性骨发育异常。
Partial trisomy 17q and a generalised bone dysplasia in a 12 week fetus.
作者信息
Robb A, Forsyth L, Tolmie J
机构信息
Department of Pathology, Raigmore Hospital, Inverness.
出版信息
J Med Genet. 1987 Aug;24(8):502-4. doi: 10.1136/jmg.24.8.502.
Abstract
A fetus, which was spontaneously aborted at 12 weeks' gestation, was found to have a generalised bone dysplasia and an unbalanced karyotype with trisomy for 17q23.1----qter due to a maternal translocation: 46,XX,t(5;17)(p15.3;q23.1)mat.
摘要
一名在妊娠12周时自然流产的胎儿，被发现患有全身性骨发育异常以及核型不平衡，因母亲的染色体易位导致17号染色体长臂23.1区至末端三体：46,XX,t(5;17)(p15.3;q23.1)mat。
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