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Article

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole-Genome Sequencing: A De Novo 11q14.3-q22.3 Deletion and a Splicing-Altering Synonymous ANK1 Variant.

Journal of clinical laboratory analysis - 1 Aug 2026

Lee Hyun-Woo, Jang Ja-Hyun, Lee Beom Hee, Youk Hee-Jeong, Kim Eun Sun, Cho Kee Hyun, Chang Yun Sil, Jo Heui Seung, Jang Mi-Ae

Abstract excerpt

BACKGROUND: Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing. Rapid trio whole-genome sequencing (WGS) may provide comprehensive etiologic clarification by simultaneously detecting sequence and structural variants. METHODS: Rapid trio WGS was performed in a preterm infant with dysmorphic features, cardiac anomalies, hemolytic...

Topics

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Ankyrins
Chromosome Deletion
Chromosomes, Human, Pair 11
Infant, Newborn
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Whole Genome Sequencing

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Open in PubMed Open full text

Identifiers

PMID: 42311136
DOI: 10.1002/jcla.70289
PMCID: PMC13399808

Genes

ANK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Resolving a Complex Neonatal Phenotype by Rapid Trio Whole-Genome Sequencing: A De Novo 11q14.3-q22.3 Deletion and a Splicing-Altering Synonymous ANK1 Variant.PMID 42311136Read ↗

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