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A severely retarded 18-year-old boy with tertiary partial trisomy 14
Journal of Medical Genetics
|June 1, 1980
Summary
This study reports the oldest known case of partial trisomy 14 in an 18-year-old male with severe developmental delays. The findings highlight the genetic basis of this rare chromosomal disorder.
Area of Science:
- Human Genetics
- Clinical Dysmorphology
- Cytogenetics
Background:
- Partial trisomy 14 is a rare chromosomal abnormality associated with significant developmental impairments.
- Previous cases have primarily involved younger individuals, limiting understanding of long-term outcomes.
Observation:
- An 18-year-old male with severe intellectual and physical disabilities presented with a 47,XY, +14q- chromosomal complement.
- The patient exhibited characteristic facial dysmorphia and hand abnormalities consistent with partial trisomy 14.
Findings:
- This represents the oldest reported case of partial trisomy 14, providing insights into the condition's progression.
- The patient's mother was identified as a carrier of a reciprocal translocation, suggesting a potential mechanism for the unbalanced complement.
Implications:
- This case expands the known age range for individuals with partial trisomy 14.
- Further investigation into familial translocation carriers is crucial for genetic counseling and understanding recurrence risks.