De Novo Ring Chromosome 20 in a Male Infant with Suspected Epilepsy
The 15th Balkan Congress of Human Genetics and the 3rd Alpe Adria Meeting of Human Genetics, Bled, Slovenia, 9 - 11 October 2025, pp.160, (Summary Text)
- Publication Type: Conference Paper / Summary Text
- City: Bled
- Country: Slovenia
- Page Numbers: pp.160
- Trakya University Affiliated: Yes
Abstract
de novo ring chromosome 20 [r(20)] and a 1732 kb deletion involving 46 OMIM genes at 20q13.33, detected in an infant with clinical suspicion of epilepsy, in order to contribute to the understanding of genotype-phenotype correlations in chromosomal epilepsies and to highlight the relevance of chromosomal anomalies in early-onset neurodevelopmental disorders. Method: A 9-month-old male infant was referred due to suspected seizure activity. Karyotype analysis revealed a ring chromosome 20. To further investigate, chromosomal microarray analysis (array-CGH) was performed. Results: Array-CGH revealed a 1732 kb heterozygous deletion at 20q13.33 involving 46 OMIM genes. Among these, two genes (CHRNA4 and KCNQ2) are directly associated with epilepsy. Parental chromosome results are normal, confirming the variant as de novo. The patient is under ongoing neurological evaluation. Genetic counseling has been provided to the family, and follow-up continues to monitor developmental progress. Conclusion: This case highlights the diagnostic value of combining karyotype and array-CGH in patients with early neurological symptoms. The identification of a de novo ring chromosome 20 and epilepsy-related gene deletion provides a strong genetic explanation for the phenotype and underscores the need for early genetic testing in infants with unexplained neurodevelopmental findings. Session topic: Case reports and series.