First trimester recurrent pregnancy loss due to balanced chromosomal translocations in husband: A case report
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School of Dental Sciences, Universiti Sains Malaysia, Kelantan, MALAYSIA
Hospital Universiti Sains Malaysia, Health Campus, Kelantan, MALAYSIA
Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, MALAYSIA
Online publication date: 2022-12-11
Publication date: 2023-01-01
Electron J Gen Med 2023;20(1):em440
Early pregnancy loss in a wanted pregnancy is stressful and frustrating to any couple. It becomes even more emotionally traumatic when it occurs repeatedly. Two or more of early pregnancy loss is known as recurrent pregnancy loss (RPL). RPL is a clinical challenge for physicians to unriddle. In this case report, we illustrate a case of a 40-year-old woman who experienced six recurrent first-trimester pregnancy losses. After the third pregnancy loss, initial maternal blood investigations were done, and the results were normal. After the fifth miscarriage, both partners’ blood was tested for the cytogenetic study, and her cytogenetic analysis revealed a normal karyotype. However, the paternal showed balanced translocation 46, XY, t(6;13) (q13;14.1) with a balanced translocation between the long arm of chromosome 6 at position 6q13 and the long arm of chromosome 13 at position 13q14.1. When the initial blood investigation is considered normal, a chromosomal study is one of important etiological investigation in couples with RPL.
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