Robertsonian Translocation Patient With Recurrent Miscarriage
June 2020
in “
Zenodo (CERN European Organization for Nuclear Research)
”
TLDR Robertsonian translocation can cause recurrent miscarriages.
The document discussed Robertsonian translocation, a chromosomal abnormality where breaks occur at or near the centromeres of two acrocentric chromosomes, leading to the formation of one large metacentric chromosome and the potential loss of a small chromosome. This results in a human karyotype with 45 chromosomes due to the fusion of two chromosomes. Robertsonian translocation was noted to have a prevalence rate of 0.1% in the general population and 1% in the infertile population, primarily affecting chromosomes in groups D (13, 14, 15) and G (21, 22).