Clinical outcomes of fetuses with chromosome 16 short arm copy number variants.

Jessica KangChien-Nan LeeYi-Ning SuYi-Yun TaiChih-Ling ChenHan-Ying ChenShin-Yu Lin

Published in: Molecular genetics & genomic medicine (2023)

Incomplete penetrance and variable expressivity make prenatal counseling challenging. Most cases with inherited 16p13.11 microduplication were reported to have normal development in early childhood, and we also report a few cases of de novo 16p CNVs without further neurodevelopmental disorders.

Keyphrases

copy number
mitochondrial dna
genome wide
dna methylation
pregnant women
smoking cessation
gene expression
hiv testing
hiv infected