Case of the month: germline mosaicism in carriers of Duchenne muscular dystrophy.
Muscle Nerve
; 15(8): 960-3, 1992 Aug.
Article
en En
| MEDLINE
| ID: mdl-1353862
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) studies, were significantly altered. The case demonstrates the importance of cDNA deletion carrier testing and the counseling implications of germline mosaicism.
Buscar en Google
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Distrofina
/
Heterocigoto
/
Tamización de Portadores Genéticos
/
Mosaicismo
/
Distrofias Musculares
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Muscle Nerve
Año:
1992
Tipo del documento:
Article