Literature DB >> 9327270

Pierre-Robin sequence and severe mental retardation with chaotic behaviour associated with a small interstitial deletion in the long arm of chromosome 2 (del(2)(q331q333)).

A Vogels1, J Haegeman, J P Fryns.   

Abstract

In this report we describe a severely mentally retarded male presenting an interstitial deletion in the long arm of chromosome 2 (del(2)(q331q333)). He presented a Pierre-Robin sequence at birth, and during childhood increasing behaviour problems were noted.

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Year:  1997        PMID: 9327270

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  2 in total

1.  Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

Authors:  Jill A Rosenfeld; Blake C Ballif; Ann Lucas; Edward J Spence; Cynthia Powell; Arthur S Aylsworth; Beth A Torchia; Lisa G Shaffer
Journal:  PLoS One       Date:  2009-08-10       Impact factor: 3.240

2.  Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1.

Authors:  Hojka Gregoric Kumperscak; Danijela Krgovic; Nadja Kokalj Vokac
Journal:  J Int Med Res       Date:  2016-01-25       Impact factor: 1.671

  2 in total

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