Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations.
We report on the case of a male child with autistic disorder, postnatal overgrowth, and a minor brain malformation. Karyotyping and fluorescent in situ hybridization (FISH) analysis showed the presence of an extra copy of the distal portion of chromosome 15q (15q25.2-qter) transposed to chromosome 15p leading to 15q25.2-qter pure trisomy. This karyotype-phenotype study further supports the evidence for a specific phenotype related to trisomy 15q25 or 26-qter and suggests that distal chromosome 15q may be implicated in specific behavioral phenotypes.
Bonati
Maria Teresa
MT
Clinic of Medical Genetics, Istituto Auxologico Italiano, Via Viotti 3/5, 20133 Milan, Italy.
Finelli
Palma
P
Giardino
Daniela
D
Gottardi
Giulietta
G
Roberts
Wendy
W
Larizza
Lidia
L
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001321:Autistic Disorder / Q000473:pathology*; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005838:Genotype; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014314:Trisomy