由于父源插入（12；2）易位，2号染色体长臂33区重复导致2号染色体长臂37区重复。
Duplication 2q33 leads to 2q37 due to paternal ins (12;2) translocation.
作者信息
Dennis N R, Neu R L, Bannerman R M
出版信息
Am J Med Genet. 1978;1(3):271-7. doi: 10.1002/ajmg.1320010303.
PMID:677166
Abstract
An 18 month-old boy with partial duplication of the long arm of chromosome 2, based on a paternal balanced translocation, 46,XY,ins (12,2)( q23;q33q37), is described and compared with five previously reported cases. These children have in common a short nose with broad flat bridge and small anteverted nostrils, long upper lip, low-set ears, and minor digital anomalies.
摘要
一名18个月大的男孩，基于父亲的平衡易位，其2号染色体长臂部分重复，核型为46,XY,ins(12;2)(q23;q33q37)。本文对该病例进行了描述，并与之前报道的5例病例进行了比较。这些患儿的共同特征为鼻梁短且宽平、鼻孔小且前倾、上唇长、耳朵低位以及轻度的手指异常。
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