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Article

Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy.

Congenital anomalies - 1 Jan 2026

Nakae Koji, Hamada Shiori, Kawamura Junpei, Ueno Kentaro, Takenouchi Toshiki, Okamoto Yasuhiro

Abstract excerpt

Distal deletion 14q syndrome is a rare chromosomal disorder characterized by variable features, including growth restriction, craniofacial dysmorphism, developmental delay, and congenital anomalies. Diagnosis is often delayed because conventional G-banding may appear normal. Neonatal recognition is rarely reported, and early phenotypic features remain insufficiently defined. We report the case of a male infant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41983542
DOI: 10.1002/cga.70055
PMCID: PMC13092366

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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