Literature DB >> 3662590

Prader-Willi syndrome in siblings, due to unbalanced translocation between chromosomes 15 and 22.

F Fernandez1, C Berry, D Mutton.   

Abstract

In a family in which the father carried a balanced translocation between chromosomes 15 and 22 two of his children had Prader-Willi syndrome and an unbalanced chromosome complement, having lost the proximal bands from the long arm of chromosome 15. His four other surviving children were normal but carried a balanced translocation.

Entities:  

Mesh：

Year:  1987        PMID： 3662590      PMCID： PMC1778472          DOI： 10.1136/adc.62.8.841

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  5 in total

1.  Prader-Willi syndrome. Variable severity and recurrence risk.

Authors:  S K Clarren; D W Smith
Journal:  Am J Dis Child       Date:  1977-07

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.  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

4.  Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A.

Authors:  D Schweizer; P Ambros; M Andrle
Journal:  Exp Cell Res       Date:  1978-02       Impact factor: 3.905

5.  Chromosome 15 in Prader-Willi syndrome.

Authors:  C N Fear; D E Mutton; A C Berry; J Z Heckmatt; V Dubowitz
Journal:  Dev Med Child Neurol       Date:  1985-06       Impact factor: 5.449
  5 in total
  5 in total

1.  Prader-Willi or Angelman syndrome in familial 15q11----q13 deletion of maternal origin?

Authors:  A Schinzel; W P Robinson; A Bottani; X Yagang; A Prader
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

Review 2.  The Prader-Willi syndrome.

Authors:  M D Donaldson; C E Chu; A Cooke; A Wilson; S A Greene; J B Stephenson
Journal:  Arch Dis Child       Date:  1994-01       Impact factor: 3.791

Review 3.  Microdeletion syndromes, balanced translocations, and gene mapping.

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

4.  Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

Authors:  A Mutirangura; F Greenberg; M G Butler; S Malcolm; R D Nicholls; A Chakravarti; D H Ledbetter
Journal:  Hum Mol Genet       Date:  1993-02       Impact factor: 6.150

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

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

北京卡尤迪生物科技股份有限公司 © 2022-2023.