Ring chromosome 13 in an Omani infant boy with mental retardation and multiple congenital anomalies

Authors

• Poothirikovil Venugopalan, Department of Child Health, Child Ward 2, Sultan Qaboos University Hospital, PO Box 38, PC 123, Sultanate of Oman. Tel. +968 513562. Fax. +968 513009. E-mail: gopalax{at}omantel.net.om
• Ravinder K. Kenue, Department of Human & Clinical Anatomy, Sultan Qaboos University, Muscat, Sultanate of Oman.

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.

Article Type

Case Report

First Page

800

Last Page

803

Recommended Citation

Venugopalan, Poothirikovil and Kenue, Ravinder K. (2001) "Ring chromosome 13 in an Omani infant boy with mental retardation and multiple congenital anomalies," Saudi Medical Journal: Vol. 22: Iss. 9, Article 14.
DOI: https://doi.org/10.15537/1658-3175.1499