Inherited deletion of subband Xp21.13 in a male with Duchenne muscular dystrophy.
The chromosomes of a male patient who suffers from Duchenne muscular dystrophy (DMD) with a molecular deletion were examined with an improved high resolution R type replication banding technique. High resolution cytogenetic analysis of the proband revealed a deletion of the Xp21.13 subband. His healthy mother was heterozygous for the deletion, which is subject to random X inactivation in lymphocytes. The X chromosomes of the proband's grandmother were normal, suggesting that the deletion of the Xp21.13 subband in the mother was a new mutation. The finding of a very small, cytologically visible Xp21.1 deletion in a male DMD patient with a molecular deletion emphasises the importance of resolving the fine structure in the Xp21 region.
Werner
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Abteilung Medizinische Genetik, Medizinische Akademie Erfurt, German Democratic Republic.
Spiegler
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AW
D002648:Child; D002872:Chromosome Deletion; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D014960:X Chromosome