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

Poothirikovil Venugopalan; Ravinder K. Kenue

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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.

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