title: Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotypes, associated with mental retardation, autism and/or epilepsy, detected by BAC genome array-CGH.
abstract: This report describes the usefulness of the BAC genome array-CGH           platform in the detection of cryptic rearrangements. We examined ten patients           with normal and/or abnormal karyotypes and dysmorphic features, associated with           mental retardation, autism and/or epilepsy. This approach led us to discover further           cryptic chromosomal rearrangements, not previously detected by conventional           cytogenetic procedures, and allowed us to better delineate genotype/phenotype           correlation. Our experience shows the validity of the BAC platform as a reliable           method for genome-wide screening of chromosomal aberrations in patient with           idiopathic mental retardation and/or in association with autism and epilepsy.
authors.affiliation: Department of Experimental Medical Pathology, Faculty of Medicine and Surgery, University of Cagliari, Cagliari, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Cabras
authors.forename: A
authors.initials: A
authors.lastname: Milia
authors.forename: C
authors.initials: C
authors.lastname: Montaldo
authors.forename: A
authors.initials: A
authors.lastname: Nucaro
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D022202:Chromosomes, Artificial, Bacterial; D055028:Comparative Genomic Hybridization; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male