Retinoblastoma

A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.


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(per page)
PMID (PMCID)
30250511
(6148795)
 OTHER
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature.
Bestetti I, Sironi A, Catusi I, Mariani M, Giardino D, Manoukian S, Milani D, Larizza L, Castronovo C, Finelli P.
Mol Cytogenet. 2018;11:53.
The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region and includes intellectual disability, growth retardation, craniofacial dysmorphisms, congenital malformations, and increased risk of retinoblastoma.