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

• Published in: Journal of medical genetics Vol. 18; no. 6; pp. 442 - 447
• Main Authors: Zatz, M, Vianna-Morgante, A M, Campos, P, Diament, A J
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.12.1981; BMJ Publishing Group LTD
• 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
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.18.6.442

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.