Premium
A case of autism with an interstitial 1q deletion (1q23.3‐24.2) and a de novo translocation of chromosomes 1q and 5q
Author(s) -
Della Monica Matteo,
Lonardo Fortunato,
Faravelli Francesca,
Pierluigi Mauro,
Luquetti Daniela Varela,
De Gregori Manuela,
Zuffardi Orsetta,
Scarano Gioacchino
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32006
Subject(s) - chromosomal translocation , autism , breakpoint , genetics , chromosome , biology , gene , fish <actinopterygii> , mutation , genome , medicine , psychiatry , fishery
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. © 2007 Wiley‐Liss, Inc.