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Article

Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations.

BMC medical genomics - 1 Dec 2025

Liu Nian, Liu Ziyang, Yi Song, Li Manman, Cai Hongning

Abstract excerpt

BACKGROUND: Chromosome 1p36 deletion syndrome is the most common terminal autosomal deletion disorder. While postnatal features are well-defined, prenatal characterization remains less comprehensive. This study aims to delineate the prenatal sonographic and genetic spectrum of this syndrome and explore genotype-phenotype correlations. METHODS: A retrospective analysis was conducted on 21 consecutive prenatally...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41327254
DOI: 10.1186/s12920-025-02276-4
PMCID: PMC12781598

Genes

MMP23B
PRDM16
SPEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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