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

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.

Figure 1

Craniofacial features and genomic oligo-array data observed in the patient. Frontal (a) and (b) lateral view of the 3-year-old patient carrying a de novo 13q13.3q21.31 interstitial deletion long face with curly hair, bilateral epicanthus, broad nasal bridge, short nose with a long philtrum, thin upper lip and modest micrognathia (c) Chromosome 13 profile from oligo array-CGH showing the 27.87 megabases deletion in 13q13.3q21.31 spanning from 37,447,455 -65,319,891 base pairs (for Methods see text).