Congenital heart disease (CHD) is the most common congenital anomaly and is an
important cause of infant morbidity and mortality. Besides the epigenetic and environmental …

Background Copy number variation sequencing (CNV‐seq) could detect most chromosomal
abnormalities except polyploidy, and quantitative fluorescence polymerase chain reaction …

Background: Polyploidy is a rare lethal cytogenetic anomaly in pregnancies, generally
leading to pregnancy termination. This study aims to compare first and second trimester …

Objectives: Chromosomal abnormalities are an important cause of especially early
miscarriages. The aim of this study was to analyze the chromosomal aberrations and …

Background Trisomy 13 (T13) and sex chromosome aneuploidies (SCA) are the vital causes
of congenital malfor-mations. This study was performed to identify the T13 and SCA with …

Purpose To establish a single-nucleotide polymorphism-based analysis (SBA) method to
identify triploidy in the miscarriage tissue by using low-coverage whole-genome sequencing …

Triploidy is a lethal chromosomal abnormality. Fetuses with triploid condition have a
tendency to die in early conception and very few survive to term. In this study, we report the …

Triploidy is currently understood as a sporadic genetic disorder, with no recognisable risk of
recurrence nor identifiable risk factors. In cases of triploidy, chances of thriving through the …

Holoprosencephaly (HPE) is a dramatic human brain malformation sequence with an
extreme variable phenotypic spectrum and genetic heterogeneity, variable degree of …

Chromosomal aberrations may be numerical, due to the presence of an extra or missing
chromosome, or structural, where there is a loss of a fragment, a supernumerary portion, or a …