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Six families with balanced chromosome translocation associated with reproductive risks in Hainan Province: Case reports and review of the literature

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World Journal of Clinical Cases 2020年第1期8卷 222-233页

作者： Yun-Chun Chen Xu-Ning Huang Chang-Ying Kong Jian-Dong Hu Department of Laboratory Medicine Haikou Branch of Yueyang Hospital of Integrated Traditional Chinese and Western MedicineShanghai University of Traditional Chinese Medicine(Haikou Hospital of Traditional Chinese Medicine)Haikou 570300Hainan ProvinceChina Department of Ultrasound Medicine Second Affiliated Hospital of Hainan Medical UniversityHaikou 570300Hainan ProvinceChina Department of Gynecology Second Affiliated Hospital of Hainan Medical UniversityHaikou 570300Hainan ProvinceChina Department of Internal Medicine Haikou Branch of Yueyang Hospital of Integrated Traditional Chinese and Western MedicineShanghai University of Traditional Chinese Medicine(Haikou Hospital of Traditional Chinese Medicine)Haikou 570300Hainan ProvinceChina

BACKGROUND Balanced translocation refers to the process where breakage and reconnection of chromosomes occur at abnormal *** 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 *** the current era with rapid advances in detection technology,cytogenetic examination,as a definitive approach,still plays an essential *** 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 *** first four cases had chromosomal aberration *** These results suggested that balanced chromosomal translocation carriers are associated with reproductive risks and a very high probability of abnormal *** discovery of the first four reported chromosomal aberration karyotypes provides an important basis for studying the occurrence of genetic diseases.

关键词： reproductive risk Balanced translocation Abnormal pregnancy Genetic counseling Case report

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