Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins

Manuel R. Gomez, Andrew G. Engel, Gordon Dewald, Hamlet A. Peterson

Research output: Contribution to journalArticlepeer-review

69 Scopus citations

Abstract

Duchenne muscular dystrophy manifested in one of girl twins. The twins were monozygous on the basis of red cell and HL antigens and skin graft compatibility. Karyotyping, including banding techniques, showed a normal number of chromosomes and a normal configuration of the X-chromosome in both twins. The twins were identical in appearance until symptoms of Duchenne dystrophy developed in one at age-4-years. The maternal uncle had classic Duchenne dystrophy; the mother and the nonmanifesting twin showed evidence of being heterozygous for Duchenne dystrophy. The phenotypic difference in monozygous twins is readily explained by lyonization of the X-chromosome after twinning has occurred. The findings substantiate the existence of Duchenne dystrophy manifesting in females with normal karyotypes.

Original languageEnglish (US)
Pages (from-to)537-541
Number of pages5
JournalNeurology
Volume27
Issue number6
DOIs
StatePublished - Jun 1977

ASJC Scopus subject areas

  • Clinical Neurology

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