TY - JOUR
T1 - De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver
AU - Rapini, Novella
AU - Lidano, Roberta
AU - Pietrosanti, Silvia
AU - Vitiello, Giuseppina
AU - Grimaldi, Chiara
AU - Postorivo, Diana
AU - Nardone, Anna Maria
AU - Del Bufalo, Francesca
AU - Brancati, Francesco
AU - Manca Bitti, Maria Luisa
PY - 2014/1/10
Y1 - 2014/1/10
N2 - 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.
AB - 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.
KW - Chromosome 13q
KW - Deletion
KW - Hemangioendothelioma
KW - Liver
KW - RB1
KW - Syndrome
KW - Tumor
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U2 - 10.1186/1824-7288-40-5
DO - 10.1186/1824-7288-40-5
M3 - Article
C2 - 24433316
AN - SCOPUS:84892429655
VL - 40
JO - Italian Journal of Pediatrics
JF - Italian Journal of Pediatrics
SN - 1720-8424
IS - 1
M1 - 5
ER -