Trisomy-18 mosaicism with features of Russel-Silver syndrome. - Suppr | 超能文献

Trisomy-18 mosaicism with features of Russel-Silver syndrome.

作者信息

Chauvel P J, Moore C M, Haslam R H

出版信息

Dev Med Child Neurol. 1975 Apr;17(2):220-4. doi: 10.1111/j.1469-8749.1975.tb03473.x.

DOI:10.1111/j.1469-8749.1975.tb03473.x

Abstract

A child is described who presented at 16 months with developmental delay and clinical features of the Russell-Silver syndrome. Chromosome analysis revealed trisomy-18 mosaicism. Only one other similar case has been reported in the literature. It is recommended that chromosomal studies continue to be included in the clinical investigation of children with Russell-Silver syndrome.

摘要

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Trisomy-18 mosaicism with features of Russel-Silver syndrome.

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Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.Silver-Russell综合征：遗传病因及候选染色体区域剖析

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Russell-Silver Syndrome in a Nigerian infant with intrauterine growth retardation.一名患有宫内生长迟缓的尼日利亚婴儿患罗素-西尔弗综合征。

J Natl Med Assoc. 2001 May;93(5):185-94.

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Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.7p11.2 - p13区域的重复，包括GRB10基因，与Silver-Russell综合征相关。

Am J Hum Genet. 2000 Jan;66(1):36-46. doi: 10.1086/302717.

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Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients.Silver-Russell综合征的生长发育与症状：基于386例患者的综述

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Russell-Silver syndrome.罗素-西尔弗综合征

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