Literature DB >> 3777022

Duchenne muscular dystrophy in a girl with a 45,X/46,XX/47,XXX chromosome constitution.

E R Bortolini, D M da Silva, R S Chequer, A M Vianna-Morgante, M Zatz.   

Abstract

We report on a 4-year-old girl with Duchenne muscular dystrophy (DMD). One of her sisters had grossly elevated serum creatine-kinase and pyruvate-kinase levels, and one of her maternal great uncles was presumptively affected by DMD. Cytogenetic analysis showed a 45,X/46,XX/47,XXX chromosome constitution. The maternally inherited DMD gene is presumed to be present on the single X of the 45,X cell line.

Entities:  

Mesh：

Substances：

Year:  1986        PMID： 3777022     DOI： 10.1002/ajmg.1320250207

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


  3 in total

1.  Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome.

Authors:  M I Tejada; E Mornet; E Tizzano; M Molina; M Baiget; A Boue
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

2.  Normal growth and normalization of hypergonadotropic hypogonadism in atypical Turner syndrome (45,X/46,XX/47,XXX). Correlation of body height with distribution of cell lines.

Authors:  C J Partsch; R Pankau; W G Sippell; M Tolksdorf
Journal:  Eur J Pediatr       Date:  1994-06       Impact factor: 3.183

Review 3.  A case report with the peculiar concomitance of 2 different genetic syndromes.

Authors:  Alberto Lerario; Irene Colombo; Donatella Milani; Lorenzo Peverelli; Luisa Villa; Roberto Del Bo; Monica Sciacco; Giacomo Pietro Comi; Susanna Esposito; Maurizio Moggio
Journal:  Medicine (Baltimore)       Date:  2016-12       Impact factor: 1.817
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.