Literature DB >> 573673

Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases.

K F Michaelsen, C Lundsteen, F J Hansen.   

Abstract

Two cases of the Prader-Willi syndrome with 46,XY/47,XY,+mar are reported. The majority of Prader-Willi patients with chromosome abnormalities have either 15/15 translocations or mosaicism. Both of these aberrations presumably occur after fertilization. A possible relationship between high parental age and chromosome abnormalities in the Prader-Willi syndrome is discussed.

Entities:  

Mesh：

Year:  1979        PMID： 573673     DOI： 10.1111/j.1399-0004.1979.tb00983.x

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


  9 in total

Review 1.  Inv dup(15) supernumerary marker chromosomes.

Authors:  T Webb
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

2.  The genetic significance of accessory bisatellited marker chromosomes.

Authors:  P Steinbach; M Djalali; I Hansmann; E Kattner; M Meisel-Stosiek; H D Probeck; A Schmidt; M Wolf
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  A new case of Prader-Willi syndrome with chromosomal aberration.

Authors:  S Moric-Petrovic; Z Laca; A Krstic; M Zivkov
Journal:  J Med Genet       Date:  1981-12       Impact factor: 6.318

Review 4.  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

5.  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

6.  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

7.  Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Authors:  W P Robinson; J Wagstaff; F Bernasconi; C Baccichetti; L Artifoni; E Franzoni; L Suslak; L Y Shih; H Aviv; A A Schinzel
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

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
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.