10q部分单体综合征：两例患者报告及发育数据综述

The partial monosomy 10q syndrome: report on two patients and review of the developmental data.

作者信息

Schrander-Stumpel C, Fryns J P, Hamers G

机构信息

Department of Clinical Genetics, Academic Hospital, University of Limburg, Maastricht, The Netherlands.

出版信息

J Ment Defic Res. 1991 Jun;35 ( Pt 3):259-67. doi: 10.1111/j.1365-2788.1991.tb01059.x.

DOI:10.1111/j.1365-2788.1991.tb01059.x

PMID:1920392

Abstract

Two patients, a boy and a girl, with growth delay, mental retardation and mild dysmorphism due to a de novo terminal 10q deletion are described. A recognizable facial appearance with a prominent nose and dysplastic ears was present. Specific attention is given to the developmental and behavioural data of the children. A review is made of the psychologic data of the 18 earlier reported surviving cases.

摘要

本文描述了两名因新发10号染色体末端缺失而出现生长发育迟缓、智力障碍和轻度畸形的患者，一男一女。他们具有可识别的面部特征，包括鼻子突出和耳朵发育异常。文中特别关注了这两名儿童的发育和行为数据。同时，对之前报道的18例存活病例的心理数据进行了综述。