Academic Journal
Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping.
| Τίτλος: | Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping. |
|---|---|
| Συγγραφείς: | Privitera F; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy., Pagano S; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy., Nutile G; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy., Meossi C; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy., Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, 56126, Italy., Schifino M; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy., Santorelli FM; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, Pisa, 56128, Italy. filippo.santorelli@fsm.unipi.it.; Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, Pisa, 56128, Italy. filippo.santorelli@fsm.unipi.it.; IRCCS Stella Maris Foundation, via dei Giacinti 2, Calambrone, Pisa, 56128, Italy. filippo.santorelli@fsm.unipi.it. |
| Πηγή: | Neurogenetics [Neurogenetics] 2026 Sep 19; Vol. 27 (1). Date of Electronic Publication: 2026 Sep 19. |
| Τύπος έκδοσης: | Journal Article; Case Reports |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE |
| Imprint Name(s): | Publication: <2002->: [New York, N.Y.?] : Springer-Verlag Original Publication: Oxford, UK : Oxford University Press, c1997- |
| Ιατρικοί όροι (MeSH): | Chromosome Mapping*/methods , Chromosomes, Human, Pair 2*/genetics , Chromosome Deletion*, Humans ; Male ; Comparative Genomic Hybridization ; Syndrome ; Child |
| Περίληψη: | Deletions of the short arm of chromosome 2 are rare, and phenotypical differences depend on the cytobands involved. Here, we present a new patient carrying a de novo heterozygous 2p13-p11.2 deletion, detected by array CGH and further investigated by optical genome mapping. We compare his clinical findings with few other similar cases described in the literature, and with those associated with 2p12-p11.2 deletions. We conclude that the two conditions are clinically overlapping, and propose genes not previously implicated, such as TET3 and CCT7, may aggravate their main clinical features in the context of a contiguous multigenic deletion syndrome. (© 2026. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.) |
| Competing Interests: | Declarations. Institutional review board statement: The study was approved by the Tuscany Region Ethics Committee (154/2020). Informed consent statement: The patients gave informed consent for diagnostic testing and research studies. The study was conducted in accordance with the Helsinki Declaration of 1964, as revised in October 2013 in Fortaleza, Brazil. Financial interests: The authors declare they have no financial interests. Competing interests: The authors declare no competing interests. |
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| Grant Information: | Ricerca Corrente 2025 Ministero della Salute |
| Contributed Indexing: | Keywords: CCT7; TET3; 2p deletion syndrome; Optical Genome Mapping |
| Entry Date(s): | Date Created: 20260919 Date Completed: 20260919 Latest Revision: 20261008 |
| Update Code: | 20261008 |
| DOI: | 10.1007/s10048-026-00942-y |
| PMID: | 42762249 |
| Βάση Δεδομένων: | MEDLINE |
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