Literature DB >> 3281568

Interstitial deletion of 17p11.2: case report and review.

M A Hamill1, S H Roberts, M J Maguire, K M Laurence.   

Abstract

A child with mental retardation and multiple congenital abnormalities, including brachycephaly, an unusual facies, brachydactyly, clinodactyly and bilateral talipes valgus, was found to have a small interstitial deletion of the short arm of chromosome 17. The clinical features and cytogenetic observations are compared with those in previously reported cases.

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Mesh：

Year:  1988        PMID： 3281568

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  3 in total

1.  Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

Authors:  R C Juyal; L E Figuera; X Hauge; S H Elsea; J R Lupski; F Greenberg; A Baldini; P I Patel
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

Review 2.  Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.

Authors:  A Moncla; M O Livet; M Auger; J F Mattei; M G Mattei; F Giraud
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

3.  Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Authors:  F Greenberg; V Guzzetta; R Montes de Oca-Luna; R E Magenis; A C Smith; S F Richter; I Kondo; W B Dobyns; P I Patel; J R Lupski
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025
  3 in total

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