13q deletion syndrome in an adult mentally retarded patient.
Clinical features of the 13q deletion syndrome are difficult to define and include retinoblastoma, mental and growth retardation, craniofacial abnormalities, brain, gastrointestinal, renal and heart malformations, anal atresia and limb and digit malformations. The critical region for development of major organ systems has been defined in 13q32 between the proximal marker 13S132 and distal marker D13S147. We report a severely mentally retarded male patient with a deletion of the distal part of chromosome 13 (13q32.3-->qter) without major organ malformations.
Centre for Human Genetics, Leuven, Belgium.
G
G
Van Buggenhout
J
J
Trommelen
B
B
Hamel
J P
JP
Fryns
D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D013577:Syndrome