ArticleMolecular cytogenetics2017
Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.
Article in Molecular cytogenetics, 2017. 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, 6 citations in OpenAlex.
- Building the brain mosaic: an expanded view.Trends in genetics : TIG · 2024Review
- Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder.Molecular cytogenetics · 2020Article
- Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.Molecular cytogenetics · 2018Article
- Constitutional Ring Chromosomes in Greek Pediatric Patients: A 50-year Single-center Cytogenetic Study.In vivo (Athens, Greece)Article
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Authors and funding
7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundThe majority of small supernumerary marker chromosome cases arise CASE PRESENTATION: The girl presented with developmental delay, speech delay, myopia, mild muscle hypotonia, hypoplasia of orbicular muscle, poor concentration, and hyperactivity. Main dysmorphic features included: round face, microstomia, small chin, down-slanting palpebral fissures and small lobules of both ears. At present, her developmental abilities are still delayed for her chronological age but she is making evident progress with speech. A postnatal array comparative genomic hybridization showed a 2.31 Mb genomic gain indicating microduplication derived from pericentric regions q11.1 and q11.2 of chromosome 17. Additional conventional cytogenetic analysis from peripheral blood characterized the karyotype as 47,XX,+mar in a non-mosaic form. The location of microduplication was confirmed with fluorescence
conclusionThe proband's microduplication encompassed approximately 40 annotated genes, several of which have been associated with phenotypic characteristics of the proband. This is the first report of sSMC 17 including this particular chromosomal region in non-mosaic form.
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