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

P Venugopalan; R K Kenue

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

Saudi Med J. 2001 Sep;22(9):800-3.

Authors

P Venugopalan¹, R K Kenue

Affiliation

¹ Department of Child Health, Sultan Qaboos University, Muscat, Sultanate of Oman. gopalax@omantel.net.om

PMID: 11590457

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Chromosomes, Human, Pair 13 / genetics*
Humans
Infant
Intellectual Disability / genetics*
Male
Oman
Phenotype
Ring Chromosomes*