Literature DB >> 132130

[Partial trisomy 21 (21q21 - 21q22.2)].

M Poissonnier, B Saint-Paul, B Dutrillaux, M Chassaigne, P Gruyer, G de Blignières-Strouk.   

Abstract

An abnormal chromosome 21 is reported in a child with a phenotype strongly reminiscent of trisomy 21 syndrome. It is shown to result from duplication of the segment 21q21 leads to 21q22.2. Comparison of the phenotype with that of other partial and total trisomics shows that the characteristic features of the trisomy 21 syndrome (mongolism), the mental retardation in particular - is due to trisomy 21q22.2 and perhaps 21q22.2.

Entities:  

Mesh:

Substances:

Year:  1976        PMID: 132130

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  22 in total

1.  Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.

Authors:  Z Rahmani; J L Blouin; N Creau-Goldberg; P C Watkins; J F Mattei; M Poissonnier; M Prieur; Z Chettouh; A Nicole; A Aurias
Journal:  Proc Natl Acad Sci U S A       Date:  1989-08       Impact factor: 11.205

2.  Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21.

Authors:  J L Blouin; A Aurias; N Créau-Goldberg; F Apiou; C Alcaide-Loridan; A Bruel; M Prieur; J Kraus; J M Delabar; P M Sinet
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

3.  Human ETS2 gene on chromosome 21 is not rearranged in Alzheimer disease.

Authors:  N Sacchi; J Nalbantoglu; F R Sergovich; T S Papas
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

4.  Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome).

Authors:  J M Delabar; P M Sinet; B Chadefaux; A Nicole; A Gegonne; D Stehelin; F Fridlansky; N Créau-Goldberg; C Turleau; J de Grouchy
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

5.  Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.

Authors:  M L Van Keuren; P C Watkins; H A Drabkin; E W Jabs; J F Gusella; D Patterson
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025

6.  Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody.

Authors:  M Van Keuren; H Drabkin; I Hart; D Harker; D Patterson; S Vora
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

7.  Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization.

Authors:  M C Pellissier; M Laffage; N Philip; E Passage; M G Mattei; J F Mattei
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132

8.  Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.

Authors:  J R Korenberg; C Bradley; C M Disteche
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

9.  Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22.

Authors:  E A Wulfsberg; R E Carrel; I J Klisak; T J O'Brien; J A Sykes; R S Sparkes
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

Review 10.  Molecular genetics of human chromosome 21.

Authors:  P C Watkins; R E Tanzi; S V Cheng; J F Gusella
Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.