Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:).
In this report we present a 9-year-old boy with mental retardation, behavioural problems and terminal deletion of the short arm of chromosome 8(8pter----8p23.1:). In contrast with previously reported patients with larger terminal and interstitial 8p deletions he did not present major phenotypic abnormalities.
Fryns
J P
JP
Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
Kleczkowska
A
A
Vogels
A
A
Van den Berghe
H
H
D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure*; D003456:Cryptorchidism / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D001523:Mental Disorders / Q000235:genetics*; D010641:Phenotype; D012640:Seizures / Q000235:genetics