Somatic mosaicism at the duchenne locus
- 1 October 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 37 (2) , 187-190
- https://doi.org/10.1002/ajmg.1320370206
Abstract
Results of testing a family for carrier status and prenatal diagnosis for Duchenne muscular dystrophy (DMD) are best explained by somatic mosaicism in the maternal grandfather. This genetic situation was identified using segregation analysis of intragenic DNA polymorphisms, a serum creatine phosphokinase assay, and physical examination of the patient. This event at the DMD locus represents one more potential source of error in carrier testing and prenatal diagnosis.Keywords
This publication has 34 references indexed in Scilit:
- A deletion hot spot in the Duchenne muscular dystrophy geneGenomics, 1988
- Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: Isolation and use of J66 (DXS268), a distal intragenic markerGenomics, 1987
- A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected maleNature, 1987
- 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
- The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy.Journal of Medical Genetics, 1986
- RECOMBINATION WITH PERT87 (DXS164) IN FAMILIES WITH X-LINKED MUSCULAR DYSTROPHYThe Lancet, 1986
- Duchenne‐like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritanceClinical Genetics, 1985
- Severe Autosomal Recessive Muscular Dystrophy in an Extended Sudanese KindredDevelopmental Medicine and Child Neurology, 1983
- The Application of Bayesian Methods in Genetic CounsellingHuman Heredity, 1969