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Open Access 01-12-2014 | Case report

De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver

Authors: Novella Rapini, Roberta Lidano, Silvia Pietrosanti, Giuseppina Vitiello, Chiara Grimaldi, Diana Postorivo, Anna Maria Nardone, Francesca Del Bufalo, Francesco Brancati, Maria Luisa Manca Bitti

Published in: Italian Journal of Pediatrics | Issue 1/2014

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.

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Title: De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver
Authors: Novella Rapini
Roberta Lidano
Silvia Pietrosanti
Giuseppina Vitiello
Chiara Grimaldi
Diana Postorivo
Anna Maria Nardone
Francesca Del Bufalo
Francesco Brancati
Maria Luisa Manca Bitti
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: Italian Journal of Pediatrics / Issue 1/2014
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/1824-7288-40-5

At a glance: The STEP trials

Springer Medicine

De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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