Literature DB >> 949862

Partial trisomy 15 in a young girl.

C B Mankinen, J G Hold, J W Sears.   

Abstract

Severe mental retardation, growth failure, microcephaly, micrognathia, cleft palate, hooked nose, low-set thin flabby ears, pronounced elongated philtrum, and generalized decreased subcutaneous tissue characterized a 5 year 9 month old female with karyotype 47,XX,+15,del(15)(q15).

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Mesh：

Year:  1976        PMID： 949862     DOI： 10.1111/j.1399-0004.1976.tb00005.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

1.  An analysis of the parental age effect for inv dup (15).

Authors:  J M Connor; D H Gilmore
Journal:  J Med Genet       Date:  1984-06       Impact factor: 6.318

2.  RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.

Authors:  C Xiang; V Baubet; S Pal; L Holderbaum; V Tatard; P Jiang; R V Davuluri; N Dahmane
Journal:  Cell Death Differ       Date:  2011-11-18       Impact factor: 15.828

3.  Inv dup (15) with mental retardation but few dysmorphic features.

Authors:  D H Gilmore; E Boyd; J P McClure; P Batstone; J M Connor
Journal:  J Med Genet       Date:  1984-06       Impact factor: 6.318
  3 in total

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