ArticleMolecular cytogenetics2016
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency.
Article in Molecular cytogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report.Frontiers in medicine · 2026Article
- Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype.Molecular genetics & genomic medicine · 2021Article
- Article
- Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature.Molecular cytogenetics · 2021Article
- Identification of a likely pathogenic structural variation in theNPJ genomic medicine · 2020Article
- Integrated multifactor analysis explores core dysfunctional modules in autism spectrum disorder.International journal of biological sciences · 2018Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5-431.5 Kb at 18p11.31-p11.23 in a 10 year-old boy. CASE PRESENTATION: In a 10 year-old boy with moderate psychomotor delay, hypoplasia of the cerebellar vermis, chorioretinal coloboma, deafness and growth hormone deficiency (GHD), an interstitial microduplication at 18p11.31-p11.23 was identified by array-CGH. This maternally inherited microduplication, encompasses three genes, namely
conclusionsThe genotype-phenotype is discussed with particular attention to the
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