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[Ring of the chromosome 4. I - With 4p- phenotype]
Annales De Genetique
|June 1, 1977
Insights
A rare ring chromosome 4 was identified in a boy with developmental delays. This genetic anomaly, with breakpoints at 4p15 and 4q35, mimics symptoms of 4p deletion syndrome.
Area of Science:
- Human Genetics
- Clinical Cytogenetics
- Pediatric Neurology
Background:
- Ring chromosome 4 (r(4)) is a rare chromosomal abnormality.
- 4p deletion syndrome, also known as Wolf-Hirschhorn syndrome, presents with characteristic developmental defects.
Observation:
- An 8-year-old boy presented with mental retardation, growth retardation, and developmental defects.
- Karyotyping revealed a ring chromosome derived from chromosome 4.
Findings:
- The ring chromosome 4 had specific breakpoints identified at 4p15 and 4q35.
- The patient's phenotype closely resembled that of 4p deletion syndrome.
Implications:
- This case highlights the phenotypic overlap between ring chromosome 4 and 4p deletion syndrome.
- Accurate cytogenetic analysis is crucial for diagnosing complex chromosomal abnormalities and guiding genetic counseling.
Abstract:
A ring chromosome derived from a No. 4 chromosome was found in the complement of an 8-year-old boy with mental retardation and growth retardation and developmental defects characteristic of 4p deletion. Break points were at 4p15 and 4q35.