PMID- 29422950 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20220311 IS - 1755-8166 (Print) IS - 1755-8166 (Electronic) IS - 1755-8166 (Linking) VI - 11 DP - 2018 TI - A feasible diagnostic approach for the translocation carrier from the indication of products of conception. PG - 12 LID - 10.1186/s13039-018-0362-8 [doi] LID - 12 AB - BACKGROUND: Chromosome translocations are rare but frequently associated with infertility. The objective of this study is to investigate the feasibility of using chromosomal microarray analysis (CMA) on products of conception (POC) samples as an indicator of parental balanced translocation. From January 2011 to December 2016, CMA using Affymetrix Cytoscan750K array was performed on 1294 POC samples in our hospital. Karyotyping and fluorescence in situ hybridization (FISH) using parental blood samples were performed to validate the origin of subchromosomal copy number variations (CNVs). RESULTS: In the 1294 cases of POCs, we detected CNVs of terminal duplication and deletion that imply unbalanced translocation derivatives in 16 cases, and accurate diagnosis with the parental study was made in all the cases by karyotyping and/or FISH. In 10/16 (62.5%) of these cases, CNVs were inherited from one carrier parent of balanced translocation (Cases 1 to 10), while 6/16 (37.5%) cases occurred de novo (Cases 11 to 16). CONCLUSION: This study clearly illustrated the importance of the utilization of CMA on POC, followed by parental karyotyping and FISH to better characterize CNVs. This approach is especially useful for couples in whom one partner carries a cryptic/submicroscopic balanced translocation but has an apparently normal karyotype. FAU - Qian, Ye-Qing AU - Qian YQ AD - 1Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34 AD - 2Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 0369 313X. GRID: grid.419897.a AD - Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. FAU - Fu, Xiao-Ying AU - Fu XY AD - 1Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34 AD - 2Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 0369 313X. GRID: grid.419897.a AD - Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. FAU - Wang, Xiao-Qing AU - Wang XQ AD - 1Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34 AD - 2Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 0369 313X. GRID: grid.419897.a AD - Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. FAU - Luo, Yu-Qin AU - Luo YQ AD - 1Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34 AD - 2Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 0369 313X. GRID: grid.419897.a AD - Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. FAU - Chen, Min AU - Chen M AD - 1Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34 AD - 2Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 0369 313X. GRID: grid.419897.a AD - Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. FAU - Yan, Kai AU - Yan K AD - 1Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34 AD - 2Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 0369 313X. GRID: grid.419897.a AD - Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. FAU - Yang, Yan-Mei AU - Yang YM AD - 1Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34 AD - 2Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 0369 313X. GRID: grid.419897.a AD - Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. FAU - Liu, Bei AU - Liu B AD - 1Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34 AD - 2Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 0369 313X. GRID: grid.419897.a AD - Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. FAU - Wang, Li-Ya AU - Wang LY AD - 1Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34 AD - 2Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 0369 313X. GRID: grid.419897.a AD - Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. FAU - Huang, Ying-Zhi AU - Huang YZ AD - 1Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34 AD - 2Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 0369 313X. GRID: grid.419897.a AD - Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. FAU - Li, Hong-Ge AU - Li HG AD - 1Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34 AD - 2Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 0369 313X. GRID: grid.419897.a AD - Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. FAU - Pan, Hang-Yi AU - Pan HY AD - 1Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34 AD - 2Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 0369 313X. GRID: grid.419897.a AD - Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. FAU - Jin, Fan AU - Jin F AD - 1Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34 AD - 2Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 0369 313X. GRID: grid.419897.a AD - Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. FAU - Dong, Min-Yue AU - Dong MY AUID- ORCID: 0000-0002-4344-7924 AD - 1Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 1759 700X. GRID: grid.13402.34 AD - 2Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. ISNI: 0000 0004 0369 313X. GRID: grid.419897.a AD - Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang 310006 People's Republic of China. LA - eng PT - Journal Article DEP - 20180130 PL - England TA - Mol Cytogenet JT - Molecular cytogenetics JID - 101317942 PMC - PMC5791184 OTO - NOTNLM OT - Balanced translocation OT - Chromosome microarray analysis OT - Fluorescence in situ hybridization OT - Products of conception COIS- This study was approved by the Ethics Committee of Women's Hospital, School of Medicine, Zhejiang University. Written informed consent was obtained from all participants.Not applicableThe authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. EDAT- 2018/02/10 06:00 MHDA- 2018/02/10 06:01 PMCR- 2018/01/30 CRDT- 2018/02/10 06:00 PHST- 2017/07/21 00:00 [received] PHST- 2018/01/22 00:00 [accepted] PHST- 2018/02/10 06:00 [entrez] PHST- 2018/02/10 06:00 [pubmed] PHST- 2018/02/10 06:01 [medline] PHST- 2018/01/30 00:00 [pmc-release] AID - 362 [pii] AID - 10.1186/s13039-018-0362-8 [doi] PST - epublish SO - Mol Cytogenet. 2018 Jan 30;11:12. doi: 10.1186/s13039-018-0362-8. eCollection 2018.