Literature DB >> 8259881

Occurrence of Duchenne dystrophy in Klinefelter's syndrome.

V Ramesh1, R Mountford, H M Kingston, A Kelsey, M J Noronha, M A Clarke.   

Abstract

A boy with Duchenne muscular dystrophy and facial dysmorphism in conjunction with Klinefelter's genotype 47XXY is presented; this is an unusual situation with two genetic errors evolving over two generations. Karyotyping should be considered in boys with Duchenne muscular dystrophy who have unusual features.

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Year:  1993        PMID： 8259881      PMCID： PMC1029558          DOI： 10.1136/adc.69.4.453

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  2 in total

Review 1.  Recent advances in understanding muscular dystrophy.

Authors:  K M Bushby
Journal:  Arch Dis Child       Date:  1992-10       Impact factor: 3.791

2.  Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree.

Authors:  G K Suthers; J I Manson; L M Stern; E A Haan; J C Mulley
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318
  2 in total
  1 in total

Review 1.  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
  1 in total

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