title: Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
abstract: We report two individuals with developmental delay and dysmorphic features, in whom array-based comparative genomic hybridization (array CGH) led to the identification of a 2p15p16.1 de novo deletion. In the first patient (Patient 1) a familial deletion of 6q12, inherited from her father, was also detected. In the second patient (Patient 2) in addition to the 2p15p16.1 microdeletion a de novo deletion in Xq28 was detected. Both individuals shared dysmorphic features and developmental delay with the six reported patients with a 2p15p16.1 microdeletion described in medical literature.
  
  
  CONCLUSIONS
  in the first patient a 642 kb 2p16.1 deletion (from 60.604 to 61.246 Mb), and a 930 kb 6q12 familial deletion, was detected and in the second a 2.5 Mb 2p15p16.1 deletion (from 60.258 to 62.763 Mb), with a Xq28 deletion, was discovered. The common dysmorphic features and neurodevelopmental delay found in these patients are in agreement with the clinical phenotype of a microdeletion syndrome involving 2p15p16.1. Our data confirm the hypothesis suggesting that 2p15p16.1 deletion is a contiguous gene syndrome.
authors.affiliation: U.O. Pediatria e TIN Dipartimento Materno-Infantile, Università degli Studi di Palermo via Alfonso Giordano 3, 90127 Palermo, Italy. piccionemaria@libero.it
authors.forename: Maria
authors.initials: M
authors.lastname: Piccione
authors.forename: Ettore
authors.initials: E
authors.lastname: Piro
authors.forename: Francesca
authors.initials: F
authors.lastname: Serraino
authors.forename: Simona
authors.initials: S
authors.lastname: Cavani
authors.forename: Roberto
authors.initials: R
authors.lastname: Ciccone
authors.forename: Michela
authors.initials: M
authors.lastname: Malacarne
authors.forename: Mauro
authors.initials: M
authors.lastname: Pierluigi
authors.forename: Marianna
authors.initials: M
authors.lastname: Vitaloni
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D010641:Phenotype; D017384:Sequence Deletion; D012729:Sex Chromosome Aberrations; D013577:Syndrome