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Article

Prenatal diagnosis and genetic counseling of a de novo 10q11.21q11.23 duplication associated with a normal phenotype.

The Journal of international medical research - 1 Aug 2024

Ouyang Liu, Li Yan, Liu Fangfang, Zeng Qin

Abstract excerpt

Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Unbalanced chromosome abnormalities are either gains or losses of large genomic regions that do not or only minimally clinically affect the individual. Noninvasive prenatal testing (NIPT) is widely used in the screening of common fetal chromosome aneuploidy. One example is the duplication of 10q11.21q11.23, which...

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Share to Chromosome Duplication
Share to Chromosomes, Human, Pair 10

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39175233
DOI: 10.1177/03000605241271837
PMCID: PMC11344892

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