ArticleJournal of clinical laboratory analysis2022
A novel chromosome 2q24.3-q32.1 microdeletion in a fetus with multiple malformations.
Article in Journal of clinical laboratory analysis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 2 citations in OpenAlex.
- Feeding dysfunction in a neonate with interstitial deletion of chromosome 2q24.3-q32.1: a case report.BMC pediatrics · 2026Article
- A novel chromosome 2q24.3-q32.1 microdeletion in a fetus with multiple malformations.Journal of clinical laboratory analysis · 2022Article
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9 authors at 1 institution in 1 country.
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Abstract
backgroundTerminal or interstitial deletion of chromosome 2q is rarely reported but clinically significant, which can result in developmental malformations and psychomotor retardation in humans. In the present study, we analyzed this deletion to comprehensively clarify the relationship between phenotype and microdeletion region.
methodsWe collected clinical records of the fetus and summarized patient symptoms. Subsequently, genomic DNA was extracted from fetal tissue or peripheral blood collected from parents. In addition, whole-exome sequencing (WES) and copy number variation sequencing (CNV-seq) were performed.
resultsThe fetus presented a previously unreported interstitial deletion of 2q24.3-q32.1. WES and CNV-seq revealed a de novo 18.46 Mb deletion at 2q24.3-q32.1, a region involving 94 protein-coding genes, including HOXD13, MAP3K20, DLX1, DLX2, SCN2A, and SCN1A. The fetus had upper and lower limb malformations, including camptodactyly and syndactyly, along with congenital cardiac defects.
conclusionHerein, we report a fetus with a novel microdeletion of chromosome 2q24.3-q32.1, likely a heterozygous pathogenic variant. Haploinsufficiency of HOXD13 might be related to limb deformity in the fetus.
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