title: De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver.
abstract: Interstitial deletions of the long arm of chromosome 13 (13q) are related with variable phenotypes, according to the size and the location of the deleted region. The main clinical features are moderate/severe mental and growth retardation, cranio-facial dysmorphism, variable congenital defects and increased susceptibility to tumors. Here we report a 3-year-old girl carrying a de novo 13q13.3-21.32 interstitial deletion. She showed developmental delay, growth retardation and mild dysmorphism including curly hair, high forehead, short nose, thin upper lip and long philtrum. An abnormal mass was surgically removed from her liver resulting in a hemangioendothelioma. Array analysis allowed us to define a deleted region of about 27.87 Mb, which includes the RB1 gene. This is the first report of a 13q deletion associated with infantile hemangioendothelioma of the liver.
authors.forename: Novella
authors.initials: N
authors.lastname: Rapini
authors.forename: Roberta
authors.initials: R
authors.lastname: Lidano
authors.forename: Silvia
authors.initials: S
authors.lastname: Pietrosanti
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Vitiello
authors.forename: Chiara
authors.initials: C
authors.lastname: Grimaldi
authors.forename: Diana
authors.initials: D
authors.lastname: Postorivo
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Nardone
authors.forename: Francesca
authors.initials: F
authors.lastname: Del Bufalo
authors.affiliation: Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Viale Oxford, 81-00133 Rome, Italy. f.brancati@css-mendel.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Manca Bitti
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D004247:DNA / Q000032:analysis; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D006390:Hemangioendothelioma / Q000150:complications / Q000235:genetics*; D006498:Hepatectomy; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008113:Liver Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D010641:Phenotype; D016160:Retinoblastoma Protein / Q000235:genetics*
chemical_list: D016160:Retinoblastoma Protein; D004247:DNA