Literature DB >> 6660251

Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13).

V Ventruto, R Pisciotta, S Renda, B Festa, M M Rinaldi, M Stabile, M L Cavaliere, M Esposito.   

Abstract

A father and three of his offspring had skeletal abnormalities consisting of a short forearm, cubitus valgus, fusion of first and second cervical vertebrae, and cleft of L5 and S1. All four had a reciprocal, apparently balanced, translocation 2;8(q32;p13). Normal sibs had normal chromosomes. We conclude that this may be a rare instance of an autosomal dominant condition associated with a balanced chromosome translocation.

Entities:  

Mesh:

Year:  1983        PMID: 6660251     DOI: 10.1002/ajmg.1320160416

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


  3 in total

1.  Genetic and physical mapping of the mouse Ulnaless locus.

Authors:  C L Peichel; C M Abbott; T F Vogt
Journal:  Genetics       Date:  1996-12       Impact factor: 4.562

Review 2.  Microdeletion syndromes, balanced translocations, and gene mapping.

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

3.  Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina).

Authors:  Agnès Burel; Thomas Mouchel; Sylvie Odent; Filiz Tiker; Bertrand Knebelmann; Isabelle Pellerin; Daniel Guerrier
Journal:  J Negat Results Biomed       Date:  2006-03-23
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.