Bone dysplasias, nontraditional mechanisms of inheritance and monozygotic twins.
New developments in the area of cytogenetics and molecular genetics have suggested a variety of newly recognized mechanisms that result in human genetic disorders. These mechanisms are being observed among individuals with bone dysplasias. Mosaicism imprinting, parent-of-origin differences, uni- parental disomy (UPD) and mono-zygotic twinning represent mechanisms which modify the phenotypic expression of the bone dysplasia.
Hall
J G
JG
Department of Pediatrics, University of British Columbia, B. C. Children's Hospital, 4480 Oak Street, Room 2D19, Vancouver, B. C. V6H 3N1, Canada.
Lopez-Rangel
E
E
D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D004200:Diseases in Twins; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D014430:Twins, Monozygotic