Iris transillumination defects associated with pallister-killian syndrome.
This report describes a new finding of iris transillumination defects in Pallister-Killian syndrome, a rare multi-system disorder resulting from mosaic tetrasomy of the short arm of chromosome 12.
Ticho
Benjamin H
BH
Hope Children's Hospital, Oak Lawn, Illinois, Chicago, Illinois, USA.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001006:Anus, Imperforate / Q000175:diagnosis* / Q000235:genetics; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D045822:Intestinal Volvulus / Q000175:diagnosis* / Q000235:genetics; D007498:Iris / Q000002:abnormalities; D007499:Iris Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009030:Mosaicism; D013577:Syndrome