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Ring 20 chromosome in a child with seizures, minor anomalies, and retardation
Archives of Disease in Childhood
|June 1, 1979
Insights
A patient with ring chromosome 20 experienced seizures and developmental delays. This rare chromosomal abnormality requires accurate diagnosis for genetic counseling.
Area of Science:
- Genetics
- Neurology
- Developmental Pediatrics
Background:
- Ring chromosome 20 (r(20)) is a rare chromosomal abnormality.
- Patients with r(20) often present with neurological and developmental challenges.
Observation:
- A case report details a patient with seizures, developmental delay, and minor physical anomalies.
- Karyotype analysis revealed a ring formation of chromosome 20.
Findings:
- The patient's presentation aligns with previously documented cases of r(20).
- Seizures and behavioral issues are common, with variable physical and intellectual impairment.
Implications:
- Accurate diagnosis of ring chromosome 20 is crucial for effective genetic counseling.
- Understanding the phenotype associated with r(20) aids in patient management and prognosis.
Abstract:
A patient is reported with seizures, developmental delay, and minor physical anomalies. Karyotype showed a ring formation of chromosome number 20. Previously reported patients with this chromosomal aberration have typically had seizures and behavioural disorders with considerable variation in the degree of physical abnormality and mental retardation. A correct diagnosis in such a case is important for accurate genetic counselling.