AUTHOR=Iordanescu Irina Ioana , Neacsu Anca Teodora , Catana Andreea , Barabas-CuzmicI Zina , Suciu Viorel , Dragomir Cristina , Voicu Diana Elena , Severin Emilia , Militaru Mariela Sanda 

TITLE=Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods

JOURNAL=Frontiers in Genetics

VOLUME=Volume 14 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1258752

DOI=10.3389/fgene.2023.1258752

ISSN=1664-8021

ABSTRACT=Chromosome mosaicism and low-grade mosaicism presents a challenge for diagnosis in the era of SNP array and NGS. Tetraploidy is a rare numerical chromosomal abnormality characterized by the presence of four copies of each chromosome. The prevalence of tetraploidy/diploidy mosaicism cases is extremely rare in the human population. Accurate estimates of the frequency of this chromosomal anomaly are lacking due to its classification as an extremely rare and difficult-to-detect condition. In this report, we describe two cases involving challenging diagnoses of tetraploidy/diploidy and trisomy 12. Additionally, we discuss the utility of first-tier prenatal testing methods such as SNP array compared to conventional G band karyotyping.