Literature DB >> 6499252

Duplication in chromosome 15q in a boy with the Prader-Willi syndrome; further cytogenetic confusion.

H F de France, F A Beemer, P F Ippel.   

Abstract

We describe a six-year-old boy with the typical features of Prader-Willi syndrome. Cytogenetic investigation revealed a chromosome aberration that has not been described yet, i.e. a duplication in the proximal half of 15q. Based upon banding-pattern the exact nature of the duplicated part could not be delineated. Both parents had a normal karyotype. Various hypotheses concerning the relationship between Prader-Willi syndrome and various chromosome 15 abnormalities are discussed.

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Year:  1984        PMID： 6499252     DOI： 10.1111/j.1399-0004.1984.tb01075.x

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


  10 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.  Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.

Authors:  J A Crolla; J F Harvey; F L Sitch; N R Dennis
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

4.  Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.

Authors:  F L Long; D P Duckett; L J Billam; D K Williams; J A Crolla
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

5.  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

6.  Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome.

Authors:  T A Donlon; M Lalande; A Wyman; G Bruns; S A Latt
Journal:  Proc Natl Acad Sci U S A       Date:  1986-06       Impact factor: 11.205

7.  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 8.  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

9.  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

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

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

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