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

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.

journal_name

Neurology

journal_title

Neurology

authors

Gomez MR,Engel AG,Dewald G,Peterson HA

doi

10.1212/wnl.27.6.537

subject

Has Abstract

pub_date

1977-06-01 00:00:00

pages

537-41

issue

6

eissn

0028-3878

issn

1526-632X

journal_volume

27

pub_type

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