Case of the month: Germline mosaicism in carriers of duchenne muscular dystrophy
- 1 August 1992
- journal article
- case report
- Published by Wiley in Muscle & Nerve
- Vol. 15 (8) , 960-963
- https://doi.org/10.1002/mus.880150815
Abstract
Carrier testing in a Duchenne muscular dystrophy (DMD) family resulted in the identification of a case of germline mosaicism. Using dystrophin cDNA probes, this phenomenon was ascertained by the demonstration of a deletion junction fragment present in the DNA of the affected patient and one sister but absent in the mother's DNA. As a result of this finding carrier risk estimations, based on restriction fragment length polymorphism (RFLP) of cDNA deletion carrier testing and the counseling implications of germline mosaicism. © 1992 John Wiley & Sons, Inc.Keywords
This publication has 4 references indexed in Scilit:
- A Maelll polymorphism near the dystrophin gene promoter by restriction of amplified DNANucleic Acids Research, 1990
- Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.Journal of Medical Genetics, 1989
- Germline mosaicism and Duchenne muscular dystrophy mutationsNature, 1987
- Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individualsCell, 1987