ArticleJournal of reproduction & infertility
Inter-chromosomal Effect in a Robertsonian Translocation (13;14) Carrier with a Child Affected by Down Syndrome: A Case Report.
Article in Journal of reproduction & infertility. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
5 authors.
Funding
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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.
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