1q远端部分三体综合征。一种成年期独特的临床畸形综合征。
Partial distal 1q trisomy. A distinct clinical dysmorphic syndrome in adulthood.
作者信息
Fryns J P, de Muelenaere A, Pedersen J, Van Den Berghe H
出版信息
Ann Genet. 1980;23(3):181-2.
PMID:6968537
Abstract
Partial distal 1q trisomy (1q32 leads to 1qter) is reported in a 19 year-old deeply mentally handicapped girl. The dysmorphic stigmata in this patient are strikingly similar to those found in the two previously reported adult individuals, which were trisomic for the same segment of 1q.
摘要
据报道，一名19岁的重度智力障碍女孩存在部分1号染色体长臂末端三体性（1q32至1q末端）。该患者的畸形特征与之前报道的两名成年个体极为相似，这两名成年个体在1号染色体长臂的同一区段存在三体性。
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