Inter-chromosomal Effect in a Robertsonian Translocation (13;14) Carrier with a Child Affected by Down Syndrome: A Case Report

Abstract

Background: Although the balanced carriers of Robertsonian translocations (ROBs) typically exhibit normal phenotypes, they may experience recurrent abortions or have offspring with chromosomal disorders. A proposed mechanism is the inter-chromosomal effect (ICE), where disrupted meiotic segregation may increase aneuploid gamete production. This study presents a male case carrier of t(13;14) who had a deceased child with Down syndrome (DS) and investigates t(13;14) as a potential factor contributing to the birth of a child with DS. 

Case Presentation: A couple with a history of recurrent abortions and a deceased child with DS was referred to a medical genetics laboratory. Karyotype analysis revealed that the male partner was a carrier of t(13;14) (45,XY,t(13;14)), while the female partner had a normal karyotype. The couple’s subsequent pregnancy resulted in a healthy female fetus inheriting t(13;14). The deceased child had a karyotype of 47, XY, +21, consistent with DS. In this study, the role of t(13;14) and ICE as potential contributors to the birth of a child with DS was explored. 

Conclusion: Prenatal screening for carriers of ROBs is strongly recommended to assess the risk of unbalanced chromosomal disorders in offspring