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Article

4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2015

Piccione Maria, Salzano Emanuela, Vecchio Davide, Ferrara Dante, Malacarne Michela, Pierluigi Mauro, Ferrara Ines, Corsello Giovanni

Abstract excerpt

BACKGROUND: Microscopically chromosome rearrangements of the short arm of chromosome 4 include the two known clinical entities: partial trisomy 4p and deletions of the Wolf-Hirschhorn critical regions 1 and 2 (WHSCR-1 and WHSCR-2, respectively), which cause cranio-facial anomalies, congenital malformations and developmental delay/intellectual disability. METHODS/RESULTS: We report on clinical findings detected in...

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Identifiers

PMID: 25769226
DOI: 10.1016/j.ejpn.2015.02.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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