1号染色体部分三体（q42至qter）：1例具有轻度表型的新病例。
Partial trisomy 1(q42-->qter): a new case with a mild phenotype.
作者信息
Concolino D, Cinti R, Ferraro L, Moricca M T, Strisciuglio P
机构信息
Department of Paediatrics, Faculty of Medicine, University of Reggio Calabria, Ospedale A Pugliese, Catanzaro, Italy.
出版信息
J Med Genet. 1998 Jan;35(1):75-7. doi: 10.1136/jmg.35.1.75.
Abstract
We report a female patient with a 46,XX,der(8)t(1;8)(q42.1;p23.3) karyotype who had a mild phenotype characterised by a few subtle dysmorphic features and mild developmental retardation, probably resulting from trisomy 1q42-->qter. The deletion on the short arm of the chromosome 8 appeared to be confined to the distal chromosomal segment.
摘要
我们报告了一位核型为46,XX,der(8)t(1;8)(q42.1;p23.3)的女性患者，其具有轻度表型，特征为一些细微的畸形特征和轻度发育迟缓，可能是由于1q42→qter三体所致。8号染色体短臂上的缺失似乎局限于染色体远端片段。
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