Cebocephalus associated with trisomy 13-15 mosaicism.
A case of cebocephalus occurred in association with a 10% mosaicism of trisomy 13-15. Both parents of the affected child had normal karyotypes. Cebocephalus has been associated with abnormal chromosomes such as a deletion of the short arm of chromosome 18 as well as the trisomy 13-15.
D009008:Abnormalities, Severe Teratoid / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism; D014314:Trisomy