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Trisomy 5: delineation of clinical features
Birth Defects Original Article Series
|January 1, 1977
Summary
Partial trisomy of chromosome 5 short arm causes a distinct syndrome with characteristic facial features, intellectual disability, and seizures. A novel translocation between chromosomes 5 and 4 was identified in one family.
Area of Science:
- Human genetics
- Clinical dysmorphology
- Cytogenetics
Background:
- Partial trisomy of chromosome 5 short arm (5p) is associated with a recognizable clinical syndrome.
- Key features include distinctive facial appearance, developmental and growth delays, seizures, and specific dermatoglyphic patterns.
Purpose of the Study:
- To describe a novel chromosomal translocation involving chromosome 5 short arm.
- To delineate the clinical features associated with this specific genetic abnormality.
Main Methods:
- Karyotyping was performed to analyze chromosomal structure.
- Clinical examinations and genetic analysis were conducted on affected family members.
Main Results:
- A unique translocation between the short arm of chromosome 5 and the short arm of chromosome 4 (4;5p) was identified.
- Affected individuals exhibited major features consistent with 5p trisomy, including characteristic facial features, intellectual disability, growth retardation, and seizures.
Conclusions:
- Partial trisomy 5p results in a distinct syndrome with identifiable clinical manifestations.
- The novel 4;5p translocation represents a previously unreported cause of 5p trisomy syndrome.