PMID- 37065489 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20230418 IS - 1664-8021 (Print) IS - 1664-8021 (Electronic) IS - 1664-8021 (Linking) VI - 14 DP - 2023 TI - Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing. PG - 1132404 LID - 10.3389/fgene.2023.1132404 [doi] LID - 1132404 AB - Chromosome rearrangement is one of the main causes of abortion. In individuals with double chromosomal rearrangements, the abortion rate and the risk of producing abnormal chromosomal embryos are increased. In our study, preimplantation genetic testing for structural rearrangement (PGT-SR) was performed for a couple because of recurrent abortion and the karyotype of the male was 45, XY der (14; 15)(q10; q10). The PGT-SR result of the embryo in this in vitro fertilization (IVF) cycle showed microduplication and microdeletion at the terminals of chromosomes 3 and 11, respectively. Therefore, we speculated whether the couple might have a cryptic reciprocal translocation which was not detected by karyotyping. Then, optical genome mapping (OGM) was performed for this couple, and cryptic balanced chromosomal rearrangements were detected in the male. The OGM data were consistent with our hypothesis according to previous PGT results. Subsequently, this result was verified by fluorescence in situ hybridization (FISH) in metaphase. In conclusion, the male's karyotype was 45, XY, t(3; 11)(q28; p15.4), der(14; 15)(q10; q10). Compared with traditional karyotyping, chromosomal microarray, CNV-seq and FISH, OGM has significant advantages in detecting cryptic and balanced chromosomal rearrangements. CI - Copyright (c) 2023 Ren, Keqie, Li, Li, Luo, Gao, Peng, Chen, Hu, Chen and Liu. FAU - Ren, Jun AU - Ren J AD - Center of Prenatal Diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Keqie, Yuezhi AU - Keqie Y AD - Center of Prenatal Diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Li, Yutong AU - Li Y AD - Center of Prenatal Diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Li, Lingping AU - Li L AD - Center of Prenatal Diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Luo, Min AU - Luo M AD - Center of Prenatal Diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Gao, Meng AU - Gao M AD - Center of Prenatal Diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Peng, Cuiting AU - Peng C AD - Center of Prenatal Diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Chen, Han AU - Chen H AD - Center of Prenatal Diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Hu, Ting AU - Hu T AD - Center of Prenatal Diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Chen, Xinlian AU - Chen X AD - Center of Prenatal Diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Liu, Shanling AU - Liu S AD - Center of Prenatal Diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. LA - eng PT - Case Reports DEP - 20230331 PL - Switzerland TA - Front Genet JT - Frontiers in genetics JID - 101560621 PMC - PMC10102332 OTO - NOTNLM OT - FISH OT - PGT-SR OT - complex chromosome rearrangements OT - cryptic reciprocal translocation OT - optical genome mapping COIS- The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. EDAT- 2023/04/18 06:00 MHDA- 2023/04/18 06:01 PMCR- 2023/03/31 CRDT- 2023/04/17 03:56 PHST- 2022/12/30 00:00 [received] PHST- 2023/03/21 00:00 [accepted] PHST- 2023/04/18 06:01 [medline] PHST- 2023/04/17 03:56 [entrez] PHST- 2023/04/18 06:00 [pubmed] PHST- 2023/03/31 00:00 [pmc-release] AID - 1132404 [pii] AID - 10.3389/fgene.2023.1132404 [doi] PST - epublish SO - Front Genet. 2023 Mar 31;14:1132404. doi: 10.3389/fgene.2023.1132404. eCollection 2023.