Literature DB >> 6448567

[Trisomy 21 by mirror duplication 46,XX,psu dic(21)ter rea (21q21q) (author's transl)].

C Turleau, M Roubin, F Chavin-Colin, J de Grouchy.   

Abstract

"Mirror image" duplication of chromosome 21 -- 46,XX,pter dic(21)ter rea(21q21q) -- was observed in a patient with the complete phenotype of trisomy 21 and a ses-sesquialtère de la SOD1.

Entities:  

Mesh：

Substances：

Year:  1980        PMID： 6448567

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


  3 in total

1.  A case of Down's syndrome resulting from mirror duplication of chromosome 21.

Authors:  C Stoll; A Pennerath; C Lausecker
Journal:  Eur J Pediatr       Date:  1982-02       Impact factor: 3.183

2.  Dicentric chromosome 13 and centromere inactivation.

Authors:  S Schwartz; C G Palmer; D D Weaver; J Priest
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.

Authors:  C Pangalos; D Théophile; P M Sinet; A Marks; D Stamboulieh-Abazis; Z Chettouh; M Prieur; C Verellen; M O Rethoré; J Lejeune
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.