title: Ring chromosome 13 in an Omani infant boy with mental retardation and multiple congenital anomalies.
abstract: An Omani infant boy with severe physical and psychomotor retardation, facial dysmorphism, and anomalies of the cardiovascular and genito-urinary systems is described. The chromosomal analysis revealed a 46, XY, r (13) (p11;q34) karyotype. The cytogenetic basis of this rare abnormality is outlined and phenotypic features are compared with published reports.
authors.affiliation: Department of Child Health, Sultan Qaboos University, Muscat, Sultanate of Oman. gopalax@omantel.net.om
authors.forename: P
authors.initials: P
authors.lastname: Venugopalan
authors.forename: R K
authors.initials: RK
authors.lastname: Kenue
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009850:Oman; D010641:Phenotype; D012303:Ring Chromosomes