Trisomy 20p: case report and genetic review.
作者信息
Lurie I W, Rumyantseva N V, Zaletajev D V, Gurevich D B, Korotkova I A
出版信息
J Genet Hum. 1985 Jan;33(1):67-75.
PMID:3981145
Abstract
Partial trisomy for the distal part of the short arm of chromosome 20 reported in a girl aged 11/2 years with typical craniofacial dysmorphies and psychomotor retardation. The trisomy resulted from a paternal translocation t(14;20) (q32.3;p11.1). The review of 25 cases of partial trisomy 20p showed that most cases (22 : 25) were due to parental translocations. Predominant involvement of small chromosomes in translocations with chromosome 20 was also detected.
摘要
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