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

P Venugopalan1, R K Kenue

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

Saudi Medical Journal
|October 9, 2001
PubMed

Insights

A rare ring chromosome 13 abnormality was identified in an Omani infant boy with severe developmental delays and multiple congenital anomalies. This case highlights the phenotypic spectrum associated with this chromosomal disorder.

Area of Science:

  • Human Genetics
  • Clinical Dysmorphology
  • Cytogenetics

Background:

  • Ring chromosome 13 (r(13)) is a rare chromosomal abnormality.
  • It is associated with a wide spectrum of developmental abnormalities.

Observation:

  • A case report of an Omani infant boy presenting with severe physical and psychomotor retardation.
  • The infant exhibited facial dysmorphism and anomalies of the cardiovascular and genito-urinary systems.

Findings:

  • Karyotype analysis revealed a 46, XY, r(13)(p11;q34) karyotype.
  • The cytogenetic basis of this rare abnormality was outlined.
  • Phenotypic features were compared with previously published reports.

Implications:

  • This case contributes to understanding the phenotypic variability of ring chromosome 13.
  • It underscores the importance of detailed cytogenetic analysis in infants with multiple congenital anomalies.
  • Further research is needed to elucidate genotype-phenotype correlations in r(13).

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