Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus

A female with Duchenne muscular dystrophy who was a carrier of a balanced translocation t(X;6)(p21;q21) is reported. Four other previously described (X;A) translocations associated with DMD share with the present case a breakpoint at Xp21. The extremely low probability of five independent (X;A) tran...

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Bibliographic Details
Published in:Journal of medical genetics 1981-12, Vol.18 (6), p.442-447
Main Authors: Zatz, M, Vianna-Morgante, A M, Campos, P, Diament, A J
Format: Article
Language:English
Subjects:
Child
Chromosome Banding
Chromosomes, Human - ultrastructure
Chromosomes, Human, 6-12 and X
Female
Humans
Karyotyping
Muscular Dystrophies - genetics
Sex Chromosomes
Translocation, Genetic
X Chromosome
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Summary:A female with Duchenne muscular dystrophy who was a carrier of a balanced translocation t(X;6)(p21;q21) is reported. Four other previously described (X;A) translocations associated with DMD share with the present case a breakpoint at Xp21. The extremely low probability of five independent (X;A) translocations having a breakpoint at Xp21 points to a non-rand association of this site with the DMD phenotype. A DMD locus at Xp21 could be damaged by the translocation, giving rise to Duchenne muscular dystrophy. Alternatively, a pre-existing DMD gene could weaken the chromosome, favouring breaks at Xp21.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.18.6.442