Objective: To assess the postnatal clinical manifestation of an antenatally detected unbalanced rearrangement involving chromosome 13 in an ethnic South Indian couple.
Methods: We used conventional cytogenetics on fetal cells obtained from prenatal specimens and on peripheral blood lymphocytes from consanguineous family members to ascertain the chromosomal abnormalities.
Results: We report the reproductive outcomes of a maternally inherited chromosome translocation involving chromosome 9 and 13 and the informed decisions of the couple, after genetic counseling in India, regarding their 4 pregnancies.