Ring chromosome 13 in an Omani infant boy with mental retardation and multiple congenital anomalies.
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.
Venugopalan
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P
Department of Child Health, Sultan Qaboos University, Muscat, Sultanate of Oman. gopalax@omantel.net.om
Kenue
R K
RK
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