Literature DB >> 8071975

A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome.

S Vickers1, M Dahlitz, C Hardy, M Kilpatrick, T Webb.   

Abstract

A male proband is described who carries a de novo translocation between chromosomes Y and 15 associated with Prader-Willi syndrome. In situ hybridisation and molecular studies were used to show loss of the paternally derived 15q11q13 region in the translocated chromosome. Lack of further symptoms indicate that this region was lost with no apparent deletion of the Y chromosome.

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Mesh：

Year:  1994        PMID： 8071975      PMCID： PMC1049927          DOI： 10.1136/jmg.31.6.478

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

1.  Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

Authors:  R D Nicholls; J H Knoll; M G Butler; S Karam; M Lalande
Journal:  Nature       Date:  1989-11-16       Impact factor: 49.962

2.  Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.

Authors:  M G Butler; F J Meaney; C G Palmer
Journal:  Am J Med Genet       Date:  1986-03

3.  Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Authors:  W P Robinson; A Bottani; Y G Xie; J Balakrishman; F Binkert; M Mächler; A Prader; A Schinzel
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

4.  Chromosome 15 in floppy infants.

Authors:  A C Berry; A J Whittingham; B G Neville
Journal:  Arch Dis Child       Date:  1981-11       Impact factor: 3.791

5.  Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.

Authors:  D H Ledbetter; V M Riccardi; S D Airhart; R J Strobel; B S Keenan; J D Crawford
Journal:  N Engl J Med       Date:  1981-02-05       Impact factor: 91.245

6.  Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15.

Authors:  J Wagstaff; J H Knoll; J Fleming; E F Kirkness; A Martin-Gallardo; F Greenberg; J M Graham; J Menninger; D Ward; J C Venter
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

7.  Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome?

Authors:  B G Kousseff; T Diamond; Y Essig; K Miller; T Tedesco
Journal:  Am J Med Genet       Date:  1987-12

8.  FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions.

Authors:  J H Knoll; D Sinnett; J Wagstaff; K Glatt; A S Wilcox; P M Whiting; P Wingrove; J M Sikela; M Lalande
Journal:  Hum Mol Genet       Date:  1993-02       Impact factor: 6.150

9.  Deletion of chromosome 15pter-->q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome.

Authors:  M B Qumsiyeh; J D Dalton; P L Gordon; R S Wilroy; A T Tharapel
Journal:  Am J Med Genet       Date:  1992-01-01

10.  Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.

Authors:  A Kuwano; A Mutirangura; B Dittrich; K Buiting; B Horsthemke; S Saitoh; N Niikawa; S A Ledbetter; F Greenberg; A C Chinault
Journal:  Hum Mol Genet       Date:  1992-09       Impact factor: 6.150
  10 in total
  2 in total

1.  Prader-Willi Syndrome: Clinical and Genetic Findings.

Authors:  Merlin G Butler; Travis Thompson
Journal:  Endocrinologist       Date:  2000-07

2.  A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.

Authors:  T Webb; D Clarke; C A Hardy; M W Kilpatrick; J Corbett; M Dahlitz
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318
  2 in total

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