title: Array CGH defined interstitial deletion on chromosome 14: a new case.
abstract: Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up.
authors.affiliation: Dipartimento Materno Infantile, Università di Palermo, via Cardinale Rampolla 1, 90142, Palermo, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Piccione
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Antona
authors.forename: Valeria
authors.initials: V
authors.lastname: Scavone
authors.forename: Michela
authors.initials: M
authors.lastname: Malacarne
authors.forename: Mauro
authors.initials: M
authors.lastname: Pierluigi
authors.forename: Marina
authors.initials: M
authors.lastname: Grasso
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D055028:Comparative Genomic Hybridization; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D011596:Psychomotor Disorders / Q000235:genetics*