Literature DB >> 1427872

Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients.

B Plougastel1, P Couillin, V Blanquet, E Le Guern, E Bakker, C Turleau, J De Grouchy, N Créau-Goldberg.   

Abstract

Cellular hybrids were obtained from a t(X;12) identified in a female patient with hypohidrotic ectodermal dysplasia (EDA). This rearrangement had the same Xq13.1 cytogenetic breakpoint as a t(X;9) found in a previously observed EDA patient. A comparative analysis of these two rearrangements with nine probes was performed at the molecular level. These probes could define three subregions: three are proximal, two are distal, and four are between the two breakpoints. These last probes should prove useful for cloning the gene.

Entities:  

Mesh:

Year:  1992        PMID: 1427872     DOI: 10.1016/s0888-7543(05)80259-9

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  2 in total

Review 1.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

2.  Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.

Authors:  F Munoz; G Lestringant; V Sybert; M Frydman; A Alswaini; P M Frossard; R Jorgenson; J Zonana
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.