title: 4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization.
abstract: 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.
  
  
  RESULTS
  We report on clinical findings detected in a Chinese patient with a de novo 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Sciences for Health Promotion and Mother and Child Care, University of Palermo, Palermo, Italy. Electronic address: piccionemaria@libero.it.
authors.forename: Maria
authors.initials: M
authors.lastname: Piccione
authors.affiliation: Department of Sciences for Health Promotion and Mother and Child Care, University of Palermo, Palermo, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Salzano
authors.affiliation: Department of Sciences for Health Promotion and Mother and Child Care, University of Palermo, Palermo, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Vecchio
authors.affiliation: Department of Sciences for Health Promotion and Mother and Child Care, University of Palermo, Palermo, Italy.
authors.forename: Dante
authors.initials: D
authors.lastname: Ferrara
authors.affiliation: Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Malacarne
authors.affiliation: Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy.
authors.forename: Mauro
authors.initials: M
authors.lastname: Pierluigi
authors.affiliation: Department of Sciences for Health Promotion and Mother and Child Care, University of Palermo, Palermo, Italy.
authors.forename: Ines
authors.initials: I
authors.lastname: Ferrara
authors.affiliation: Department of Sciences for Health Promotion and Mother and Child Care, University of Palermo, Palermo, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
mesh_terms: D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D014314:Trisomy / Q000235:genetics*; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics*
keywords: Array-CGH; Chinese children; Duplication/deletion 4p; Trisomy 4p; Wolf-Hirschhorn syndrome