title: Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH.
abstract: Toriello-Carey syndrome is a rare multiple congenital anomaly syndrome comprising agenesis of the corpus callosum, telecanthus, short palpebral fissures, abnormal ears, Pierre Robin sequence, and cardiac anomaly. Autosomal recessive inheritance has been hypothesized and chromosome abnormalities have been reported. The present case is a girl with agenesis of the corpus callosum, a large cleft palate, telecanthus, hypertelorism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus. A routine karyotype and fluorescence in situ hybridization subtelomeric analysis were normal. Array comparative genomic hybridization (CGH) identified a de novo 6 Mb interstitial deletion at 22q12.1→22q12.2. These findings support recent findings of chromosomal abnormalities in patients with the Toriello-Carey phenotype. We suggest that the clinical features described in some cases with Toriello-Carey syndrome might be due to cryptic chromosomal rearrangements and that array CGH should be considered in any case presenting with clinical features of Toriello-Carey.
authors.affiliation: Department of Anatomy and Cell Biology, University of Malta, Msida, Malta. edith.said@um.edu.mt
authors.forename: Edith
authors.initials: E
authors.lastname: Said
authors.forename: Alfred
authors.initials: A
authors.lastname: Cuschieri
authors.forename: Joris
authors.initials: J
authors.lastname: Vermeesch
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D058540:Aicardi Syndrome / Q000235:genetics / Q000473:pathology*; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology*; D055028:Comparative Genomic Hybridization; D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D013577:Syndrome