Double translocation: an interesting family history

Balkan J Med Genet. 2013 Jun;16(1):77-80. doi: 10.2478/bjmg-2013-0022.

Abstract

Double balanced translocations are particularly rare and the risk of a fetus with an unbalanced chromosomal anomaly is greater than for single translocation carriers. In this present case, we describe an interesting family history which included three generations. A couple, married for 4 years, was referred to the genetic clinic due to infertility and family chromosome anomalies. A GTG-band chromosome analysis indicated that the male partner's karyotype was 45,XY, t(3;18)(q11;ptel)t(13;14)(q10;q10). The same double balanced translocation was found in two others family members.

Keywords: Double translocation; Fluorescent in situ hybridization (FISH); Miscarriage; Robertsonian translocation.

Publication types

  • Case Reports