Literature DB >> 2948900

Down syndrome in two siblings with 47,XY,+21 and 46,XY/46,XY,-21,+t(21q;21q).

V M Der Kaloustian, R Masri, A Khudr, F Talj, B Libbus, M Nabulsi, F P Khouri.   

Abstract

This is the first report in the literature of siblings affected with Down syndrome; one sibling had a nondisjunction of chromosome 21 and the other a (21q;21q) translocation.

Mesh:

Year:  1987        PMID: 2948900     DOI: 10.1007/bf00273853

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  4 in total

1.  Trisomy 21 and trisomy 18 in half-siblings.

Authors:  T J David; A J Jones
Journal:  Humangenetik       Date:  1975

2.  X monosomy and 21 trisomy in a sibship.

Authors:  A Broustet; F Serville; P Roger; M Gachet
Journal:  Humangenetik       Date:  1975

3.  Trisomy 21 Down's syndrome in three siblings.

Authors:  G S Frohlich; A G Schonhaut; J M Tortora
Journal:  N Y State J Med       Date:  1979-05

4.  The occurrence of a ring 18, an accessory bisatellited fragment, and trisomy 21 within one sibship.

Authors:  E Grace; J Sills
Journal:  Hum Genet       Date:  1978-07-12       Impact factor: 4.132

  4 in total
  1 in total

1.  A somatic origin of homologous Robertsonian translocations and isochromosomes.

Authors:  W P Robinson; F Bernasconi; S Basaran; M Yüksel-Apak; G Neri; F Serville; P Balicek; R Haluza; L M Farah; G Lüleci
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.