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PMID: 7334502 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

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

Journal of medical genetics ·Vol. 18 ·No. 6 ·1981-12-00 ·Pages 442-7

Zatz M, Vianna-Morgante AM, Campos P, Diament AJ

Abstract

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.

MeSH Terms
Child Chromosome Banding Chromosomes, Human/ultrastructure Chromosomes, Human, 6-12 and X Female Humans Karyotyping Muscular Dystrophies/genetics Sex Chromosomes Translocation, Genetic X Chromosome
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Zatz M
Vianna-Morgante A M
Campos P
Diament A J
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49 references, click to expand
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.18.6.442
Published
1981-12-00
Pages
442-7
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1048790
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.18.6.442 PMC Full Text View journal details
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