12号染色体长臂部分远端三体性
Partial distal 12q trisomy.
作者信息
de Muelenaere A, Fryns J P, Van Den Berghe H
出版信息
Ann Genet. 1980;23(4):251-3.
PMID:6971608
Abstract
Two profoundly mentally retarded sisters with partial trisomy for the distal part of the long arm of chromosome 12 (12q24 leads to 12qter) are described. Their anomaly arose as a segregation product of a balanced t(12q-; 17q+) translocation in the mother. Both patients display a similar craniofacial dysmorphism, but lack gross internal or external malformations.
摘要
本文描述了两名患有12号染色体长臂远端部分部分三体性（12q24至12qter）的重度智力发育迟缓姐妹。她们的异常是母亲平衡易位t(12q-; 17q+)的分离产物。两名患者均表现出相似的颅面畸形，但无明显的内部或外部畸形。
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