balanced reciprocal translocation
Pronunciation: reh-SIP-roh-kal trans-loh-KAY-shun
Chromosomal rearrangement where two non-homologous chromosomes exchange segments without loss of genetic material.
Full Definition
A balanced reciprocal translocation is a chromosomal structural abnormality in which segments from two different chromosomes are exchanged without net gain or loss of genetic material. While carriers are typically phenotypically normal, they face increased risks of producing gametes with unbalanced chromosome complements, leading to pregnancy loss, birth defects, or infertility. In reproductive genetics, these carriers may benefit from preimplantation genetic testing to select chromosomally balanced embryos. The inheritance pattern follows Mendelian ratios, with a theoretical 50% risk of transmission, though actual risks vary based on the specific chromosomes and breakpoints involved.
Usage
Usage note: Distinguish from Robertsonian translocation, which involves acrocentric chromosomes.
In Context
- "Karyotype analysis revealed a balanced reciprocal translocation between chromosomes 11 and 22 in the male partner." — Genetic testing report
- "PGT-SR was recommended for the couple due to the wife's balanced reciprocal translocation and history of recurrent pregnancy loss." — Treatment planning note