Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophy.

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Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophy.

A number of DNA probes from the short arm of the X chromosome have been used to study the inheritance of the translocation chromosomes in a girl with an X; autosome translocation and muscular dystrophy. The two translocation chromosomes were found to be derived from the father's single normal X chromosome, ruling out maternal inheritance of a pre-existent mutation and enhancing the concept that...

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X linked muscular dystrophy with contractures.

Another family with X linked muscular dystrophy affecting particularly the humeral and tibial muscles is described. Cardiomyopathy in the eldest male necessitated the insertion of a pacemaker.

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Atrioventricular block and supraventricular arrhythmias with X-linked muscular dystrophy.

This report describes a family showing muscular dystrophy and atrioventricular block with an x-linked hereditary transmission. Among a known pedigree of 101 family members, 12 males were found to have skeletal muscle involvement and six needed pacemakers around age 30 years. Unlike the x-linked muscular dystrophies of Duchenne and of Becker, the predominant skeletal involvement was in humeral m...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1986

ISSN: 1468-6244

DOI: 10.1136/jmg.23.6.491