De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver.
Ital J Pediatr
; 40: 5, 2014 Jan 16.
Article
in En
| MEDLINE
| ID: mdl-24433316
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomes, Human, Pair 13
/
Retinoblastoma Protein
/
Chromosome Deletion
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Genetic Predisposition to Disease
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Chromosome Disorders
/
Hemangioendothelioma
/
Liver Neoplasms
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Newborn
Language:
En
Journal:
Ital J Pediatr
Journal subject:
PEDIATRIA
Year:
2014
Document type:
Article