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[Partial 14q trisomy. I. Partial 14q trisomy by maternal translocation t(10;14) (p15.2;q22)]
Annales De Genetique
|March 1, 1975
Insights
A balanced reciprocal translocation was inherited by two brothers from their mother. One brother has normal development, while the other has congenital malformations due to trisomy 14q.
Area of Science:
- Genetics
- Human Genetics
- Cytogenetics
Background:
- Balanced reciprocal translocations can be inherited across generations.
- Genetic rearrangements can lead to varying phenotypic outcomes in offspring.
Observation:
- A mother and her mother carried a balanced reciprocal translocation t(10;14)(p15.2;q22).
- Two sons were evaluated, one with a normal phenotype and the other with congenital malformations.
Findings:
- The son with a normal phenotype inherited the balanced translocation.
- The affected son was trisomic for the proximal region of chromosome 14q, resulting from the translocation.
Implications:
- This case highlights how chromosomal abnormalities, even balanced ones, can lead to complex genetic conditions.
- Understanding translocation inheritance patterns is crucial for genetic counseling and predicting offspring outcomes.
Abstract:
A balanced reciprocal translocation t(10;14)(p15.2;q22) is present in the mother and the maternal grand mother of two boys. One, with a normal phenotype, received the balanced translocation, the other, exhibiting congenital malformations, is trisomic for the proximal part of 14q.