Familial mental retardation due to a cryptic subtelomeric translocation -del 14qter and dup 9qter (the Anyon phenotype).
An example of familial mental retardation is described in which there is a distinctive phenotype. It consists of IQ in the 30-50 range, microcephaly, short stature, narrow skull, prominent ears and nose and a cryptic subtelomeric translocation resulting in del 14qter and dup 9qter. Variable features include congenital heart disease, peripheral neuropathy and epilepsy. The phenotype was described in 1965 by Anyon.
Lowry
R Brian
RB
Department of Medical Genetics, Alberta Children's Hospital/University of Calgary, Calgary, Alberta, Canada. brian.lowry@calgaryhealthregion.ca
Baker
Elizabeth
E
Dixon
Joanne
J
Hinton
Lyn
L
D000293:Adolescent; D000328:Adult; D002648:Child; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D016615:Telomere / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*