Abstract:
Chromosomal translocations are rare. The unbalanced trans-
locations may lead to structural malformations. The balanced
translocations may not result in phenotypic alterations, as there
is no loss or gain of genetic material. We are reporting here, a
case of a balanced translocation carrier 46XX t(4;13) and her
pregnancy outcome. Ultrasound at 11-12 weeks of gestation for
determining the nuchal translucency thickness and for prenatal
genetic testing might be considered as a part of the investiga-
tions for pregnancies with a parental balanced chromosomal
translocation.
