دورية أكاديمية
De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver
| العنوان: | De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver |
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| المؤلفون: | RAPINI, NOVELLA, MANCA BITTI, MARIA LUISA, Lidano, R, Pietrosanti, S, Vitiello, G, Grimaldi, C, Postorivo, D, Nardone, A, Del Bufalo, F, Brancati, F |
| المساهمون: | Rapini, N, Lidano, R, Pietrosanti, S, Vitiello, G, Grimaldi, C, Postorivo, D, Nardone, A, Del Bufalo, F, Brancati, F, MANCA BITTI, Ml |
| بيانات النشر: | Pacini Editore S.p.A. |
| سنة النشر: | 2014 |
| المجموعة: | Universitá degli Studi di Roma "Tor Vergata": ART - Archivio Istituzionale della Ricerca |
| مصطلحات موضوعية: | Chromosome Deletion, Diagnosis, Differential, Retinoblastoma Protein, Human, Chromosome Disorder, In Situ Hybridization, Fluorescence, Infant, Newborn, Chromosomes, Pair 13, Phenotype, Liver Neoplasm, Hepatectomy, DNA, Hemangioendothelioma, Genetic Predisposition to Disease, Female, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/wos/WOS:000331898800001; volume:40; firstpage:5; lastpage:5; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/2108/102705Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84892429655 |
| DOI: | 10.1186/1824-7288-40-5 |
| الإتاحة: | https://doi.org/10.1186/1824-7288-40-5Test http://hdl.handle.net/2108/102705Test |
| رقم الانضمام: | edsbas.ED4FB890 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1186/1824-7288-40-5 |
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