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Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features?

BMC pregnancy and childbirth - 6 Nov 2024

Luo Xiaojin, Niu Hongyan, Zhou Fei, Chen Xiaohang, Pei Yuanyuan, Liu Weiqiang, Wei Fengxiang

Abstract excerpt

OBJECTIVE: Analyze the ultrasound findings, single nucleotide polymorphism array (SNP-array) results, and pregnancy outcomes of fetuses with 7q11.23 deletions and duplications in the second and third trimesters. Investigate the prenatal ultrasound characteristics and follow up information of these fetuses. METHODS: Seven fetuses were diagnosed with 7q11.23 deletion and six with 7q11.23 duplication via SNP-array...

Topics

Humans
Female
Pregnancy
Ultrasonography, Prenatal
Pregnancy Outcome
Adult
DNA Copy Number Variations
Chromosomes, Human, Pair 7
Polymorphism, Single Nucleotide
DiGeorge Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Chromosome Duplication

Chromosome Deletion

China

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Open in PubMed Open full text

Identifiers

PMID: 39506689
DOI: 10.1186/s12884-024-06920-2
PMCID: PMC11542197

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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