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[Epilepsy in a child with ring chromosome 14]
A T Midro1, B Zadrozna-Tołwińska
1Zakładu Genetyki Klinicznej, Instytutu Połoznictwa i Chorób Kobiecych AM, Białymstoku.
Neurologia I Neurochirurgia Polska
|January 1, 1993
Summary
This case study presents a 5-year-old girl with epilepsy and ring chromosome 14 syndrome. The findings highlight typical features and brain atrophy, linking them to a partial deletion on chromosome 14.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Ring chromosome 14 syndrome is a rare chromosomal abnormality.
- Epilepsy is a common neurological symptom associated with chromosomal disorders.
Observation:
- A 5-year-old girl presented with epilepsy, psychomotor retardation, microcephaly, generalized hypotonia, and dysmorphic features.
- The photoanthropometric method was utilized to assess the dysmorphic pattern.
- Computer tomography revealed brain atrophy.
Findings:
- The observed features were consistent with ring chromosome 14 syndrome.
- The dysmorphic pattern was attributed to a partial deletion of the long arm of chromosome 14.
Implications:
- This case contributes to understanding the phenotypic spectrum of ring chromosome 14 syndrome.
- Early identification and characterization of chromosomal abnormalities are crucial for managing pediatric epilepsy and developmental disorders.