ArticleFrontiers in genetics2021
Case Report: Neuroblastoma Breakpoint Family Genes Associate With 1q21 Copy Number Variation Disorders.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Evolutionary Restructuring and Systematic Review of theJournal of developmental biology · 2026Review
- Identifying genetic variants for brain connectivity using Ball Covariance Ranking and Aggregation.Journal of the American Statistical Association · 2025Article
- Metagenomic analysis of viral genes integrated in whole genome sequencing data of Thai patients with Brugada syndrome.Genomics & informatics · 2022Article
- Oncogene or tumor suppressor gene: An integrated pan-cancer analysis ofFrontiers in endocrinology · 2022Article
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
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Abstract
Microduplications and reciprocal microdeletions of chromosome 1q21. 1 and/or 1q21.2 have been linked to variable clinical features, but the underlying pathogenic gene(s) remain unclear. Here we report that distinct microduplications were detected on chromosome 1q21.2 (GRCh37/hg19) in a mother (255 kb in size) and her newborn daughter (443 kb in size), while the same paternal locus was wild-type. Although the two microduplications largely overlap in genomic sequence (183 kb overlapping), the mother showed no clinical phenotype while the daughter presented with several features that are commonly observed on 1q21 microduplication or microdeletion patients, including developmental delay, craniofacial dysmorphism, congenital heart disease and sensorineural hearing loss.
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