Literature DB >> 6713711

Duplication or insertion in 15q11-13 associated with mental retardation-short stature and obesity-Prader-Willi or Cohen syndrome?

A Fuhrmann-Rieger, A Köhler, W Fuhrmann.   

Abstract

Difficulties of differential diagnosis between Prader-Willi Syndrome and Cohen Syndrome are demonstrated in a 12-year-old girl with obesity and mental retardation. Cytogenetic studies showed an apparently supernumerary band on chromosome 15 in the proximal region q11-13. Both parents have a normal karyotype. The aberrant chromosome was derived from an apparently normal paternal chromosome.

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Mesh：

Year:  1984        PMID： 6713711     DOI： 10.1111/j.1399-0004.1984.tb02002.x

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


  7 in total

1.  Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.

Authors:  C Mignon; F Parente; C Stavropoulou; P Collignon; A Moncla; C Turc-Carel; M G Mattei
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

2.  Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: characterization by fluorescence in situ hybridization and DNA analysis.

Authors:  K Mangelschots; B Van Roy; F Speleman; N Van Roy; J Gheuens; J Beuten; I Buntinx; M N Van Thienen; H Willekens; J Dumon
Journal:  Hum Genet       Date:  1992-06       Impact factor: 4.132

3.  Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes.

Authors:  T A Donlon
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

4.  Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

Authors:  C E Browne; N R Dennis; E Maher; F L Long; J C Nicholson; J Sillibourne; J C Barber
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

Review 5.  Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

Authors:  J Clayton-Smith; T Webb; X J Cheng; M E Pembrey; S Malcolm
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

6.  A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome.

Authors:  I Kennerknecht
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

7.  Prader-Willi syndrome: current understanding of cause and diagnosis.

Authors:  M G Butler
Journal:  Am J Med Genet       Date:  1990-03
  7 in total

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