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Case of the month: Germline mosaicism in carriers of duchenne muscular dystrophy
Author(s) -
Prior T. W.,
Papp A. C.,
Snyder P. J.,
Mendell J. R.
Publication year - 1992
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880150815
Subject(s) - duchenne muscular dystrophy , germline mosaicism , germline , dystrophin , restriction fragment length polymorphism , genetics , muscular dystrophy , germline mutation , biology , complementary dna , genetic counseling , microbiology and biotechnology , mutation , polymerase chain reaction , gene
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.