Literature DB >> 123836

Familial balanced (7;11;21) translocation and Down's syndrome in two siblings.

E Schwinger, M Mikkelsen, M Niesen.   

Abstract

Cytogenetic studies of a family with two children with Down's syndrome have revealed a balanced reciprocal translocation between chromosomes No. 7, 11 and 21 in the mother. One of three daughters has inherited this translocation. two mongoloid daughters have a supernumerary chromosome No. 21 in addition to the translocation.

Entities:  

Mesh：

Year:  1975        PMID： 123836     DOI： 10.1111/j.1399-0004.1975.tb00333.x

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


  6 in total

1.  Partial trisomy 11,46,XX,-3,-20, + der3, + der20,t(3:11:20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20.

Authors:  C G Palmer; C Poland; T Reed; J Kojetin
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

2.  Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement.

Authors:  M H Bogart; C L Bradshaw; O W Jones; J E Schanberger
Journal:  J Med Genet       Date:  1986-04       Impact factor: 6.318

3.  Familial complex autosomal translocations involving chromosomes 7, 8, and 9 exhibiting male and female transmission with segregation and recombination.

Authors:  S Walker; P J Howard; D Hunter
Journal:  J Med Genet       Date:  1985-12       Impact factor: 6.318

4.  Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations.

Authors:  B Meer; G Wolff; E Back
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility.

Authors:  A Joseph; I M Thomas
Journal:  J Med Genet       Date:  1982-10       Impact factor: 6.318

6.  A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation.

Authors:  D A Couzin; J L Watt; I A Auchterlonie
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.