A feasible diagnostic approach for the translocation carrier from the indication of products of conception.

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 s

SUBMITTER: Qian YQ 

PROVIDER: S-EPMC5791184 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature