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

Author:

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

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference17 articles.

1. Case report: cytogenetic and molecular analysis of proximal interstitial deletion of 4p, review of the literature and comparison with Wolf-Hirschhorn syndrome;Bailey;J Assoc Genet,2010

2. Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4;Cotter;Am J Med Genet,2001

3. Inv dup del(4)(:p14--> p16.3::p16.3-->qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome;Kondoh;Am J Med Genet A,2003

4. Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion;Roselló;Cytogenet Res,2009

5. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review;Zollino;Am J Med Genet C Semin Med Genet,2008

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