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1号染色体短臂缺失:简要综述

Deletion of chromosome 1p: a short review.

作者信息

Howard P J, Porteus M

机构信息

Regional Cytogenetics Unit, Royal Liverpool Hospital, UK.

出版信息

Clin Genet. 1990 Feb;37(2):127-31. doi: 10.1111/j.1399-0004.1990.tb03489.x.

Abstract

A further patient with a deletion of 1p is described, bringing the number of reported cases to 13. The cytogenetic derivation of the deletions and the clinical phenotype are reviewed. The range of breakpoints and small number of cases result in no clearly defined phenotype. Facial dysmorphism, clinodactyly of the fifth finger, mental retardation and heart defects are, however, most frequently described, with a high-arched palate, in particular, seen in deletions distal to p34.

摘要

本文描述了另外一名1p缺失的患者,使报告病例数增至13例。对缺失的细胞遗传学起源和临床表型进行了综述。断点范围和病例数较少导致没有明确界定的表型。然而,面部畸形、第五指弯曲、智力迟钝和心脏缺陷是最常描述的症状,尤其是高拱腭,在p34远端的缺失中可见。

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