Inverted distal duplication of the long arm of chromosome 8: borderline intelligence and discrete dysmorphic syndrome.
In this report, we describe an 11-years-old girl with inverted duplication in the distal part of the long arm of chromosome 8 (inv dup(8)(q24.11----q24.3). The most remarkable finding is her borderline intelligence and her nearly normal phenotype.
Kleczkowska
A
A
Center for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
Decock
P
P
Van den Berghe
H
H
D000328:Adult; D002648:Child; D002898:Chromosomes, Human, Pair 8; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D005810:Multigene Family / Q000235:genetics*; D010641:Phenotype; D014314:Trisomy