Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: report on a new affected child and follow-up on the original reported familial cases.
We describe a moderately retarded boy with a chromosome 18 deletion involving the regions q11.2q12.2. His phenotype is similar to that of other reported cases of proximal interstitial deletions involving 18q. We also provide follow-up information on the first 4 cases of proximal interstitial deletion of 18q from a family with a complex chromosome rearrangement originally reported in 1974.
Chudley
A E
AE
Department of Pediatrics, University of Manitoba, Children's Hospital, Winnipeg, Canada.
Kovnats
S
S
Ray
M
M
D002648:Child; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype