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[8:11 translocation. A familial study]
M T Vargas de los Monteros1, M C Fernández-Novoa García, M V González González
1Hospital Universitario Virgen de la Macarena.
Anales Espanoles De Pediatria
|April 1, 1989
Summary
A family study identified a reciprocal translocation 8:11 in a proband and one offspring. Genetic counseling and prenatal diagnosis are crucial for families with this chromosomal abnormality.
Area of Science:
- Human Genetics
- Cytogenetics
- Reproductive Genetics
Context:
- A family presented with a proband diagnosed with a reciprocal translocation 8:11.
- Further cytogenetic analysis was performed on three additional family members.
Purpose:
- To investigate the inheritance pattern of the reciprocal translocation 8:11 within the family.
- To assess the implications of this translocation for genetic counseling and prenatal diagnosis.
Summary:
- The proband exhibited a reciprocal translocation 8:11.
- One sibling inherited the same translocation, necessitating amniocentesis.
- Two amniotic fluid samples were analyzed: the first revealed a normal karyotype, while the second showed the reciprocal translocation 8:11.
Impact:
- This study highlights the importance of comprehensive family cytogenetic evaluation.
- The findings underscore the role of reciprocal translocations in genetic counseling, particularly concerning risks for intellectual disability and congenital malformations.
- Prenatal diagnosis is essential for informed reproductive decision-making in affected families.