A Case of Familial Translocation between Chromosomes 2 and 18

Abstract

Authors describe case of translocation trisomy in chromosome 18. Proband’s chromosomal aberration was a result of maternal reciprocal translocation t (2; 18) (q13; q23). The proband A., 28 years old, was directed to the genetic consultation at 12 weeks of pregnancy about detected by ultrasonography chromosomal markers in the fetus. Pregnant burdened reproductive history: the first pregnancy - miscarriage at an early date, second pregnancy is underdeveloped. This third pregnancy was uneventful. Genealogical history of monogenic hereditary diseases and congenital malformations is not burdened. The proband pregnancy was terminated with the consent of the family for the period of 12 weeks for medical reasons due identified chromosomal disorders in the fetus - translocation trisomy 18 (Edwards syndrome) with a poor prognosis.

Empirical risk of giving birth to a sick child in families with reciprocal translocations is about 33%, the theoretical risk is 50% [5].