ArticleMolecular cytogenetics2017
Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region.
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 6 papers.
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Who cites it
6 citing papers in PubMed.
- A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Review
- Article
- Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis.BMC medical genomics · 2024Article
- De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.American journal of medical genetics. Part A · 2024Article
- Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population.Molecular cytogenetics · 2022Article
- Case Report: Clinical Description of a Patient Carrying a 12.48 Mb Microdeletion Involving the 10p13-15.3 Region.Frontiers in pediatrics · 2021Article
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5 authors.
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Abstract
backgroundThree distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012). However, because of the variation in size of the described deletions and lack of knowledge about the involved genes, the correlation between genotypes and patients' phenotypes remains unknown. CASE PRESENTATION: We describe female patient with de novo 1,08 Mb deletion in 10p15.3 region, similar to the patient nr seven reported by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012) but with more severe clinical features. Our patient demonstrated speech and motor delay, dysmorphic features, brain abnormalities and Tetralogy of Fallot with pulmonary atresia.
conclusionsThis case shows the importance of collection of more patients with deletion in order to obtain a more precise physical map of 10p region.
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