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An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion

Nurten Kara1, Gulsen Okten, Sezgin Ozgur Guneş

  • 1Ondokuz Mayis University, Faculty of Medicine, Department of Medical Biology and Genetics, 55139 Samsun, Turkey. nurten@omu.edu.tr

Epilepsy Research
|May 20, 2008
PubMed

Insights

This study details a rare case of mosaic ring chromosome 6 with a 6q terminal deletion in a boy with epilepsy and developmental delays. This unique chromosomal abnormality presents distinct characteristics compared to other ring chromosome 6 cases.

Area of Science:

  • Genetics
  • Human Biology
  • Chromosomal Abnormalities

Background:

  • Ring chromosomes are uncommon genetic disorders, often occurring spontaneously (de novo).
  • Ring chromosome 6 is associated with variable intellectual and developmental outcomes, alongside congenital anomalies.

Observation:

  • A 10-year-old boy presented with epilepsy, mild psychomotor retardation, and dysmorphic features including microcephaly, brachycephaly, flat occiput, prominent low-set ears, and bilateral syndactyly.
  • Genetic analysis revealed a mosaic karyotype: 46,XY,r(6)(p24;q26),del(6)(q27) and 46,XY,del(6)(q27).

Findings:

  • The patient exhibited a rare de novo mosaic ring chromosome 6 combined with a 6q terminal deletion.
  • This specific chromosomal arrangement, mos46,XY,r(6)(p24;q26),del(6)(q27) [30]/46,XY,del(6)(q27) [20], is distinct from previously reported cases of mosaic ring chromosome 6.

Implications:

  • This case expands the understanding of phenotypic variability in ring chromosome 6 disorders.
  • Highlights the importance of detailed cytogenetic analysis for diagnosing complex chromosomal abnormalities.
  • Contributes to the literature on rare genetic conditions and their clinical presentations.

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