An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne muscular dystrophy carrier.
Gillan
Tanya L
TL
Molecular Diagnostic Laboratory, Alberta Children's Hospital, Calgary, Canada.
Davies
Christine
C
Innes
A Micheil
AM
Howard
Jayda
J
Graham
Lisa
L
Chernos
Judy
J
Bridge
Peter J
PJ
Parboosingh
Jillian S
JS
D002675:Child, Preschool; D002869:Chromosome Aberrations; D003951:Diagnostic Errors; D016189:Dystrophin / Q000235:genetics*; D005190:Family; D005260:Female; D018628:Gene Dosage; D020440:Gene Duplication; D006579:Heterozygote; D006801:Humans; D008297:Male; D009030:Mosaicism; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D035781:Siblings
C484258:DMD protein, human; D016189:Dystrophin