Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling

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Abstract
Melis MA, Cau M. Congiu R, Puddu R, Muntoni F, Cao A. Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling.Clin Genet 1993: 43: 247–249. © Munksgaard, 1993In this study we describe a three‐generation family in which two siblings were affected by Duchenne muscular dystrophy (DMD). Immunohisto‐chemical analysis of muscle dystrophin and haplotype analysis of the DMD locus revealed that the X chromosome carrying the DMD gene was transmitted from the healthy maternal grandfather to his three daughters. including the proband's mother. These findings indicate that the grandfather was a germinal mosaic for the DMD gene. The definition of the carrier status in two possible carriers led us to give accurate genetic counselling and to prevent the birth of an affected boy. The results of this study demonstrate the usefulness of haplotype analysis and immuno‐histochemical muscle dystrophin studies to detect hidden germinal mosaicism and to improve genetic counselling.