A Feasible Diagnostic Approach for the Translocation Carrier from the Indication of Products of Conception

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2018 Feb 10

PMID 29422950

Citations 6

Authors

Ye-Qing Qian

Xiao-Ying Fu

Xiao-Qing Wang

Yu-Qin Luo

Min Chen

Kai Yan

Yan-Mei Yang

Bei Liu

Li-Ya Wang

Ying-Zhi Huang

Hong-Ge Li

Hang-Yi Pan

Fan Jin

Min-Yue Dong

Affiliations

Soon will be listed here.

Abstract

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 Cytoscan™750K 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.

Citing Articles

Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review.

Lin Q, Liang C, Du B, Li L, Li H, Mai X BMC Med Genomics. 2024; 17(1):57.

PMID: 38383389 PMC: 10880359. DOI: 10.1186/s12920-024-01824-8.

Using single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China.

Cai M, Lin N, Guo N, Su L, Wu X, Xie X Sci Rep. 2023; 13(1):7242.

PMID: 37142625 PMC: 10160013. DOI: 10.1038/s41598-023-33668-0.

Partial trisomy 9p and partial monosomy 7p of an infant inherited from maternal balanced translocation: a case report.

Li R, Wang C, Zhang Z, Li D, Li L, Zhao D BMC Pediatr. 2023; 23(1):168.

PMID: 37046298 PMC: 10099690. DOI: 10.1186/s12887-023-03986-3.

Case report: A reciprocal translocation-free and pathogenic mutation-free embryo selected by complicated preimplantation genetic testing resulted in a healthy live birth.

Shi B, Ye Y Front Genet. 2023; 14:1066199.

PMID: 36873947 PMC: 9982009. DOI: 10.3389/fgene.2023.1066199.

[Genetic analysis of a fetus with multiple malformations caused by complex translocations of four chromosomes].

Luo Y, Shen M, Sun Y, Qian Y, Wang L, Yu J Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020; 48(4):397-402.

PMID: 31901043 PMC: 8800750. DOI: 10.3785/j.issn.1008-9292.2019.08.08.

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