一名患有多种先天性畸形的男婴出现串联重复（1）（q11----q22）。
Tandem duplication (1) (q11----q22) in a male infant with multiple congenital malformations.
作者信息
Mertens F, Johansson B, Forslund M, Olsson M, Kristoffersson U
出版信息
Clin Genet. 1987 Jul;32(1):46-8. doi: 10.1111/j.1399-0004.1987.tb03322.x.
Abstract
An inverted tandem duplication of 1q11-q22 was found in a male infant with severely retarded psychomotor development, growth retardation, and multiple congenital malformations. Trisomy for this segment of chromosome 1 has not been previously reported.
摘要
在一名精神运动发育严重迟缓、生长发育迟缓且患有多种先天性畸形的男婴中发现了1q11-q22的反向串联重复。此前尚未报道过1号染色体这一区域的三体性。
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