13号染色体长臂部分单体性和18号染色体短臂部分三体性：尸检结果的病例报告
Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.
作者信息
Beneck D, Greco M A, Wolman S R, McMorrow L E, Jansen V, Cason J
出版信息
J Med Genet. 1986 Jun;23(3):260-3. doi: 10.1136/jmg.23.3.260.
Abstract
We describe a stillborn female infant with severe intrauterine growth retardation and multiple congenital anomalies. She was found to have a deletion of 13q22----qter and trisomy of 18p11.2----pter, resulting from a maternal balanced translocation.
摘要
我们描述了一名死产女婴，她患有严重的宫内生长迟缓及多种先天性异常。她被发现存在13q22至qter的缺失以及18p11.2至pter的三体性，这是由母亲的平衡易位所致。
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