Literature DB >> 1132609

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

P J Chauvel, C M Moore, R H Haslam.   

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.

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Year:  1975        PMID： 1132609     DOI： 10.1111/j.1469-8749.1975.tb03473.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


  8 in total

Review 1.  Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.

Authors:  M P Hitchins; P Stanier; M A Preece; G E Moore
Journal:  J Med Genet       Date:  2001-12       Impact factor: 6.318

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

Authors:  D Monk; E L Wakeling; V Proud; M Hitchins; S N Abu-Amero; P Stanier; M A Preece; G E Moore
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

Review 3.  Russell-Silver syndrome.

Authors:  M A Patton
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

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

Authors:  A W Johnson; O A Mokuolu
Journal:  J Natl Med Assoc       Date:  2001-05       Impact factor: 1.798

5.  Triple mosaicism 45,XY,--18/46, XY/47,XY,+18.

Authors:  M Frydman; F Shabtai; Y Barak; I Halbrecht; E Elian
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

6.  Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients.

Authors:  H A Wollmann; T Kirchner; H Enders; M A Preece; M B Ranke
Journal:  Eur J Pediatr       Date:  1995-12       Impact factor: 3.183

7.  Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes.

Authors:  G N Wilson; S E Sauder; M Bush; I Z Beitins
Journal:  J Med Genet       Date:  1985-06       Impact factor: 6.318

8.  Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.

Authors:  Takanobu Inoue; Akie Nakamura; Tomoko Fuke; Kazuki Yamazawa; Shinichiro Sano; Keiko Matsubara; Seiji Mizuno; Yoshika Matsukura; Chie Harashima; Tatsuji Hasegawa; Hisakazu Nakajima; Kumi Tsumura; Zenro Kizaki; Akira Oka; Tsutomu Ogata; Maki Fukami; Masayo Kagami
Journal:  Clin Epigenetics       Date:  2017-05-15       Impact factor: 6.551
  8 in total

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