A Case of a Fetus with a Chimeric Duplication of 9p21.1p13.1 and a Normal Pregnancy Outcome.

doi:10.7754/Clin.Lab.2025.251019

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Article

A Case of a Fetus with a Chimeric Duplication of 9p21.1p13.1 and a Normal Pregnancy Outcome.

Clinical laboratory - 1 Sept 2026

Chen Weiping, Che Ming, Chen Caiping, Zhang Tao

Abstract excerpt

BACKGROUND: The clinical characteristics of 9p trisomy or 9p partial trisomy syndrome are growth retardation and intellectual disability, auricular deformity, eye distance too wide, sunken eyeballs, bulbous nose, low corners of the mouth, abnormal development of hands and toes and so on. METHODS: Fetal amniotic fluid cells were detected through CNV-seq, and the results were analyzed and compared. Conventional...

Read the complete abstract on PubMed

Topics

Humans
Female
Pregnancy
Chromosomes, Human, Pair 9
Trisomy
Pregnancy Outcome
Karyotyping

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adult

Mosaicism

Fetus

Chromosome Duplication

Prenatal Diagnosis

Phenotype

Amniotic Fluid

Source

Open in PubMed

Identifiers

PMID: 42734008
DOI: 10.7754/Clin.Lab.2025.251019

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