Literature DB >> 469905

The Prader-Willi syndrome with a 15/3 translocation.

M Kucerová, M Straková, Z Polívková.   

Abstract

A de novo translocation of 15q to 3p with complete monosomy of 15p and partial monosomy of 15q was detected by trypsin banding on peripheral lymphocytes of a 5-year-old boy with Prader-Willi syndrome (severe mental retardation, dyslalia, cryptorchidism, and muscular hypotonia). The pathogenic role of chromosome 15 abnormalities in the aetiology of this syndrome is discussed.

Entities:  

Mesh：

Year:  1979        PMID： 469905      PMCID： PMC1012701     

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


  5 in total

1.  [Chromosomal translocation in a mentally deficient child with cryptorchidism].

Authors:  E M BUHLER; R ROSSIER; I BODIS; V VULLIET; U K BUHLER; G STALDER
Journal:  Acta Paediatr       Date:  1963-03       Impact factor: 2.299

2.  The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.

Authors:  C J Hawkey; A Smithies
Journal:  J Med Genet       Date:  1976-04       Impact factor: 6.318

3.  Forme fruste of the Prader-Willi syndrome (HHHO) and balanced D-E translocation.

Authors:  H J Schneider; H Zellweger
Journal:  Helv Paediatr Acta       Date:  1968-04

4.  Do the Giemsa-banding patterns of chromosomes change during embryonic development?

Authors:  G D Burkholder; D E Comings
Journal:  Exp Cell Res       Date:  1972-11       Impact factor: 3.905

5.  Pathological observations on a male patient with D-ring chromosome.

Authors:  P E Sylvester; B W Richards; A T Rundle; A Stewart
Journal:  J Ment Defic Res       Date:  1971-09
  5 in total
  12 in total

1.  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

2.  Sudden cardiac death in a child affected by Prader-Willi syndrome.

Authors:  Cristoforo Pomara; Stefano D'Errico; Irene Riezzo; Gian Pio de Cillis; Vittorio Fineschi
Journal:  Int J Legal Med       Date:  2005-03-05       Impact factor: 2.686

Review 3.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases.

Authors:  J F Mattei; M G Mattei; F Giraud
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

5.  An extra idic(15p)(q11) chromosome in Prader-Willi syndrome.

Authors:  H Fujita; Y Sakamoto; Y Hamamoto
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

6.  The Prader-Willi syndrome: neuroendocrine study of identical twins.

Authors:  C Trevisan; A Saia; E Schergna; F Mantero
Journal:  Ital J Neurol Sci       Date:  1983-04

7.  Unbalanced reciprocal translocations in cases of Prader-Willi syndrome.

Authors:  D P Duckett; S H Roberts; P Davies
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

8.  Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.

Authors:  D H Ledbetter; J T Mascarello; V M Riccardi; V D Harper; S D Airhart; R J Strobel
Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025

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

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

Review 10.  Adjacent 2 meiotic disjunction. report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature.

Authors:  D P Duckett; S H Roberts
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
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