The online version of this article (doi:10.1186/1824-7288-40-5) contains supplementary material, which is available to authorized users.
The authors declare that they have no competing interests.
NR and FB collected clinical data and wrote the manuscript. RL, SP and GV drafted the manuscript. AMN and DP carried out the cytogenetic and molecular genetic studies. CG and FDB performed histological analysis and collected clinical data. MLMB ascertained the patient, drafted the manuscript and supervised this work. All authors read and approved the final manuscript.
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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- De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver
Anna Maria Nardone
Francesca Del Bufalo
Maria Luisa Manca Bitti
- BioMed Central
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