Dissemin is shutting down on January 1st, 2025

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BioMed Central, Italian Journal of Pediatrics, 1(40), 2014

DOI: 10.1186/1824-7288-40-5

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

Journal article published in 2014 by Novella Rapini, Roberta Lidano, Silvia Pietrosanti, Giuseppina Vitiello ORCID, Chiara Grimaldi ORCID, Diana Postorivo, Anna Maria Nardone, Francesca Del Bufalo ORCID, Francesco Brancati, Maria Luisa Manca Bitti, Maria Luisa Manca Bitti
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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.