A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.
Chromosomal abnormalities may cause autism by disrupting a gene or by providing a permissive genetic environment for mutations elsewhere in the genome to become expressed as autism. We report here on a patient with an apparently balanced de novo translocation of chromosomes 1q and 5q. He presented with minor dysmorphic features and renal malformations, mental retardation, and autism. Further characterization of the chromosomal rearrangement by FISH revealed a deletion in chromosome 1 from q23.3 to q24.2 corresponding to a region of rising interest in the research of autism susceptibility genes. The array-CGH technique gave better resolution of the breakpoints and the size of the deletion was calculated to be 4.97 Mb.
Della Monica
Matteo
M
Medical Genetics Department, Gaetano Rummo Hospital, Benevento, Italy.
Lonardo
Fortunato
F
Faravelli
Francesca
F
Pierluigi
Mauro
M
Luquetti
Daniela Varela
DV
De Gregori
Manuela
M
Zuffardi
Orsetta
O
Scarano
Gioacchino
G
D000015:Abnormalities, Multiple; D001321:Autistic Disorder / Q000235:genetics*; D002875:Chromosomes; D002878:Chromosomes, Human, Pair 1; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D014178:Translocation, Genetic