Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype.
A child with multiple congenital abnormalities and a de novo interstitial deletion of the long arm of chromosome 17 is reported. This is the third case reported with this chromosome abnormality. The three cases present a peculiar phenotype, which is probably specific to the deletion.
Khalifa
M M
MM
Department of Paediatrics, Kingston General Hospital, Ontario, Canada.
MacLeod
P M
PM
Duncan
A M
AM
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D003456:Cryptorchidism / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006312:Hearing Loss, Bilateral / Q000235:genetics; D006552:Hernia, Inguinal / Q000235:genetics; D006618:Hip Dislocation, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010641:Phenotype; D012886:Skull / Q000002:abnormalities*; D013933:Thumb / Q000002:abnormalities; D015354:Vision, Low / Q000235:genetics