2007•American Journal of Medical Genetics Part ARequires access
A case of autism with an interstitial 1q deletion (1q23.3‐24.2) and a de novo translocation of chromosomes 1q and 5q
Matteo Della Monica, Fortunato Lonardo, Francesca Faravelli, Mauro Pierluigi, Daniela V. Luquetti, Manuela De Gregori, Orsetta Zuffardi, Gioacchino Scarano
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Abstract
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.