ReviewMolecular genetics & genomic medicine2020
A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review.
Review in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Article
- A de Novo 2q23.1-2q23.3 duplication in a neonate with anemia, thrombocytopenia, and hypospadias: clinical and genomic characterization.Molecular cytogenetics · 2025Article
- Pathological diagnosis of transposition of the great arteries as a contributor to neonatal mortality.Journal of cardiothoracic surgery · 2025Article
- Gonadal Function in Boys with Bilateral Undescended Testes.Journal of the Endocrine Society · 2024Article
- A Novel Genetic Variant inInternational journal of molecular sciences · 2023Article
- Article
- A novel chromosome 2q24.3-q32.1 microdeletion in a fetus with multiple malformations.Journal of clinical laboratory analysis · 2022Article
- A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review.Molecular genetics & genomic medicine · 2020Review
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4 authors.
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Abstract
backgroundInterstitial deletions of 2q are rare. Those that have been reported show varying clinical manifestations according to the size of the deletion and the genomic region involved. METHOD AND
resultsWe describe a preterm male harboring a novel interstitial deletion encompassing the 2q21.2-q23.3 region of 2q, a deletion that has not been described previously. The patient had multiple congenital anomalies including agenesis of the corpus callosum, congenital cardiac defects, bilateral hydronephrosis, spontaneous intestinal perforation, hypospadias and cryptorchidism, sacral dimple and rocker-bottom feet. Array comparative genomic hybridization (aCGH) analysis revealed a de novo >18 Mb deletion at 2q21.1-q23.3, a region that included (605802, 611472 and 604593) OMIM genes.
conclusionTo the best of our knowledge this is the first report of a de novo interstitial deletion at 2q21.1-q23.3 in which haploinsufficiency of dose-sensitive genes is shown to contribute to the patient's phenotype.
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