ArticleWorld journal of clinical cases2020
Six families with balanced chromosome translocation associated with reproductive risks in Hainan Province: Case reports and review of the literature.
Article in World journal of clinical cases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Single Nucleotide Polymorphism array analysis for fetuses from balanced translocation carriers at the second trimester.Heliyon · 2024Article
- Study on The Pedigrees of Three Cases of Whole-Arm Translocation in Hainan China and Literature Review: A Retrospective Study.International journal of fertility & sterility · 2023Article
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4 authors.
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Abstract
backgroundBalanced translocation refers to the process where breakage and reconnection of chromosomes occur at abnormal positions. As the genetic substance with balanced translocation in individuals does not change, which is usually characterized by normal phenotype and intelligence, the individuals seek medical service after many miscarriages, resulting in considerable mental and physical burdens of the family members. In the current era with rapid advances in detection technology, cytogenetic examination, as a definitive approach, still plays an essential role. CASE SUMMARY: We report six cases with balanced chromosome translocation: Case 1: 46,XY,t(3;12)(q27;q24.1), infertility after 3 years of marriage; Case 2: 46,XX,t(4;16)(q31;q12), small uterus and irregular menstruation; Case 3: 46,XY,t(4;5)(q33;q13),9qh+, not pregnant after arrested fetal development; Case 4: 46,XX,t(11;17)(q13;p11.2), not pregnant after two times of spontaneous abortion; Case 5: 46,XX,t(10;13)(q24;q21.2), not pregnant after arrested fetal development for once; Case 6: 46,XX,t(1;4)(p36.1;q31.1), not pregnant after arrested fetal development for two times. The first four cases had chromosomal aberration karyotypes.
conclusionThese results suggested that balanced chromosomal translocation carriers are associated with reproductive risks and a very high probability of abnormal pregnancy. The discovery of the first four reported chromosomal aberration karyotypes provides an important basis for studying the occurrence of genetic diseases.
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