Trisomy-18 Mosaicism with Features of Russel-Silver Syndrome

Overview

Journal Dev Med Child Neurol

Date 1975 Apr 1

PMID 1132609

Citations 8

Authors

P J Chauvel

C M Moore

R H Haslam

Affiliations

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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.

Citing Articles

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Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.

Hitchins M, Stanier P, Preece M, Moore G J Med Genet. 2001; 38(12):810-9.

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Russell-Silver Syndrome in a Nigerian infant with intrauterine growth retardation.

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Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.

Monk D, Wakeling E, Proud V, Hitchins M, Abu-Amero S, Stanier P Am J Hum Genet. 2000; 66(1):36-46.

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