Literature DB >> 3087168

Cyclopia as a result of an unbalanced familial translocation, rcp(7;18)(q34;q21)

R D Smart, J Ross, G Amann, M M Nelson.   

Abstract

One fetus is described with cyclopia and associated abnormalities as a result of an unbalanced translocation involving chromosomes 7 and 18 [46XX,del 7, rcp(7;18)(q34;21)]. The parents had had a previous infant described as having possible holoprosencephaly, but no medical records were available to substantiate this description.

Entities:  

Mesh：

Year:  1986        PMID： 3087168     DOI： 10.1002/ajmg.1320240207

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

1.  Postgastrulation Smad2-deficient embryos show defects in embryo turning and anterior morphogenesis.

Authors:  J Heyer; D Escalante-Alcalde; M Lia; E Boettinger; W Edelmann; C L Stewart; R Kucherlapati
Journal:  Proc Natl Acad Sci U S A       Date:  1999-10-26       Impact factor: 11.205

2.  Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).

Authors:  E D'Alessandro; C Ligas; M L Lo Re; M P Marcanio; T Gentile; G Del Porto
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

Review 3.  Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.

Authors:  N Morichon-Delvallez; A L Delezoide; M Vekemans
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.