Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 6, 2020; 8(1): 222-233
Published online Jan 6, 2020. doi: 10.12998/wjcc.v8.i1.222
Six families with balanced chromosome translocation associated with reproductive risks in Hainan Province: Case reports and review of the literature
Yun-Chun Chen, Xu-Ning Huang, Chang-Ying Kong, Jian-Dong Hu
Yun-Chun Chen, Department of Laboratory Medicine, Haikou Branch of Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine (Haikou Hospital of Traditional Chinese Medicine), Haikou 570300, Hainan Province, China
Xu-Ning Huang, Department of Ultrasound Medicine, Second Affiliated Hospital of Hainan Medical University, Haikou 570300, Hainan Province, China
Chang-Ying Kong, Department of Gynecology, Second Affiliated Hospital of Hainan Medical University, Haikou 570300, Hainan Province, China
Jian-Dong Hu, Department of Internal Medicine, Haikou Branch of Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine (Haikou Hospital of Traditional Chinese Medicine), Haikou 570300, Hainan Province, China
Author contributions: Chen YC and Hu JD designed and performed the study; Huang XN and Kong CY participated in acquisition, analysis, or interpretation of the data; Chen YC and Hu JD wrote the paper; all authors read and approved the final manuscript.
Supported by Natural Science Foundation of Hainan Province, NO. 819MS148.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Jian-Dong Hu, MD, Doctor, Department of Internal Medicine, Haikou Branch of Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine (Haikou Hospital of Traditional Chinese Medicine), No. 45, Jinpan Road, Haikou 570216, Hainan Province, China. hamlethu@163.com
Received: July 28, 2019
Peer-review started: July 28, 2019
First decision: November 12, 2019
Revised: November 28, 2019
Accepted: December 13, 2019
Article in press: December 13, 2019
Published online: January 6, 2020
Processing time: 162 Days and 18.8 Hours
Abstract
BACKGROUND

Balanced 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.

CONCLUSION

These 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.

Keywords: Reproductive risk; Balanced translocation; Abnormal pregnancy; Genetic counseling; Case report

Core tip: The genetic substance with balanced translocation in individuals does not change, which is usually characterized by normal phenotype. Here, we report six cases with balanced chromosome translocation: Case 1: 46,XY,t(3;12)(q27;q24.1), infertility for 3 years; Case 2: 46,XX,t(4;16)(q31;q12), small uterus and irregular menstruation; Case 3: 46,XY,t(4;5)(q33;q13),9qh+, infertility; Case 4: 46,XX,t(11;17)(q13;p11.2), two times of spontaneous abortion; Case 5: 46,XX,t(10;13)(q24;q21.2), arrested fetal development for one time; Case 6: 46,XX,t(1;4)(p36.1;q31.1), arrested fetal development for two times. This study suggested that balanced chromosomal translocation carriers are associated with reproductive risks. The first four reported chromosomal aberration karyotypes provide an important basis for studying the occurrence of genetic diseases.