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Partial trisomy 14q24 leads to qter.
Journal of Medical Genetics
|December 1, 1983
Summary
This study describes a rare genetic condition, partial trisomy 14q, in a newborn male. The chromosomal anomaly resulted from a maternal balanced translocation, highlighting its inheritance pattern.
Area of Science:
- Human Genetics
- Cytogenetics
- Reproductive Genetics
Background:
- Partial trisomy of chromosome 14q (14q24 to qter) is a rare chromosomal abnormality.
- Maternal balanced translocations can lead to unbalanced segregation during meiosis, resulting in aneuploidy in offspring.
Observation:
- A newborn male presented with partial trisomy for the distal long arm of chromosome 14.
- The chromosomal anomaly was identified as adjacent 1 meiotic segregation product from a maternal balanced translocation t(11;14)(q25;q24).
Findings:
- The karyotype confirmed the specific genetic imbalance: 46,XY,der(11),t(11;14)(q25;q24) mat.
- This case represents the second reported instance of trisomy for this specific segment of chromosome 14q.
Implications:
- Understanding the meiotic behavior of translocations is crucial for genetic counseling.
- Further research is needed to elucidate the phenotypic consequences of partial trisomy 14q.