title: Interstitial deletion of a proximal 3p: a clinically recognisable syndrome.
abstract: Interstitial deletions of the proximal short arm of chromosome 3 occurring as constitutional aberrations are rare and a defined clinical phenotype is not established yet. We report on a 30-months-old girl with distinct facial features (square facies, plagiocephaly, broad forehead, broad nasal bridge, long philtrum and low set ears) and psychomotor/speech delay associated with an interstitial deletion of 3p12 chromosomal band, del(3)(p12p12). Clinical manifestations of our child were compared with those of other eight patients with the same deletion previously described to further delineate the proximal 3p deletion syndrome.
authors.affiliation: Neuroscience Department, Pediatric Neurology Unit, Tor Vergata University of Rome, Via Montpellier 1, 00133 Rome, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Lalli
authors.forename: Cinzia
authors.initials: C
authors.lastname: Galasso
authors.forename: Adriana
authors.initials: A
authors.lastname: Lo Castro
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Nardone
authors.forename: Ambrogio
authors.initials: A
authors.lastname: Di Paolo
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
mesh_terms: D001919:Bradycardia / Q000151:congenital; D002675:Child, Preschool; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003582:Cytogenetics; D004569:Electroencephalography; D005145:Face / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005317:Fetal Growth Retardation / Q000503:physiopathology; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics* / Q000523:psychology; D008279:Magnetic Resonance Imaging; D009069:Movement Disorders / Q000235:genetics* / Q000523:psychology; D010641:Phenotype; D006831:Polyhydramnios / Q000503:physiopathology; D011247:Pregnancy; D013577:Syndrome