4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization. (July 2015)

• Record Type: Journal Article
• Authors: Piccione, Maria; Salzano, Emanuela; Vecchio, Davide; Ferrara, Dante; Malacarne, Michela; Pierluigi, Mauro; Ferrara, Ines; Corsello, Giovanni
• Is Part Of: European journal of paediatric neurology. Volume 19:Number 4(2015:Jul.)
• Page Start: 477
• Page End: 483
• Publication Date: 2015-07
• Subjects: Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2015.02.002
• Languages: English
• ISSNs: 1090-3798

Abstract

<abstract xml:lang="en" abstract-type="author" id="abs0010"> <title id="sectitle0010a">Abstract</title> <sec> <title id="sectitle0015a">Background</title> <p id="abspara0010a">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.</p> </sec> <sec> <title id="sectitle0020a">Methods/results</title> <p id="abspara0015a">We report on clinical findings detected in a Chinese patient with a <italic>de novo</italic> 4p16.1-p15.32 duplication in association with a subtle 4p terminal deletion of 6 Mb in size. This unusual chromosome imbalance resulted in WHS classical phenotype, while clinical manifestations of 4p trisomy were practically absent.</p> </sec> <sec> <title id="sectitle0025a">Conclusion</title> <p id="abspara0020a">This observation suggests the hypothesis that haploinsufficiency of sensitive dosage genes with regulatory function placed in WHS critical region, is more pathogenic than concomitant 4p duplicated segment. Additionally clinical findings in our patient confirm a variable penetrance of major malformations and neurological features in Chinese children despite of WHS critical region's deletion.</p> </sec> </abstract>