Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome.
Wang
Jia-Chi
JC
Cytogenetics laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario Medical Genetics and Pediatrics, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
Khan
Aneal
A
D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis / Q000235:genetics*; D004423:Ear / Q000002:abnormalities*; D005146:Facial Asymmetry / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007569:Jaw Abnormalities / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male