Case of the month: Germline mosaicism in carriers of duchenne muscular dystrophy | Zendy

Prior T. W. | Zendy; Papp A. C. | Zendy; Snyder P. J. | Zendy; Mendell J. R. | Zendy

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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.

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