Abstract
It is widely known that the increased prevalence of chromosomal abnormalities is mainly
due to Robertsonian and reciprocal translocations as compared to duplication, deletion
and inversion. In case of balanced translocations, there are no phenotypic characteristics
observed in the carrier, but it leads to increased risk of producing unbalanced gametes.
In this case report we present a prenatal case diagnosed at 16 weeks of gestation
with trisomy for chromosome 18 along with inherited balanced reciprocal translocation
between chromosome 7 and 18. Chromosome analysis of fetal amniotic fluid and maternal
peripheral blood was performed at the Clinical Genetics Department. Fetal chromosome
analysis confirmed a rare genetic abnormality 47,t(7;18)(p13;q21)mat, + 18. Maternal
karyotype confirmed a balanced reciprocal translocation 46,XX,t(7;18)(p13;q21). The
pregnancy was terminated at 16–17 weeks due to abnormal karyotype results. The present
findings can be used as an effective tool for reproductive guidance and genetic counseling
of the couple.
Keywords
Robertsonian and reciprocal translocation - Amniotic fluid - Prenatal diagnosis -
Trisomy 18 - Genetic counseling
