Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event.
作者信息
Vermeesch J R, Thoelen R, Salden I, Raes M, Matthijs G, Fryns J-P
出版信息
J Med Genet. 2003 Aug;40(8):e93. doi: 10.1136/jmg.40.8.e93.
Abstract
摘要
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Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event.一名畸形女婴中的8号染色体短臂缺失/倒位重复嵌合体：一种由8号染色体短臂OR基因减数分裂错误和独立的末端缺失事件形成的嵌合体。
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