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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 22620 retinoblastoma Eponyms: Inheritance: OSRC osteosarcoma retinoblastomarelated p105-Rb RBI autosomal dominant Semeiological Ocular disorder, isolated defect. White pupillar "cat's eye reflex", strabismus, typical ophthalmoscopic changes. Occasionally, detected in fetus. Newborn incidence of 1 in 15 000-25 000. Genetic risk to offspring: Synthesis: 1) unilateral form: a) unaffected: with one affected sib or child: 1%; with two affected sibs or affected parent and sib: 5%; b) affected: with no affected relatives: 1%; with affected parent or sib: 45%. 2) bilateral form: a) unaffected: with one affected child 2%; with affected parent 5%; b) affected: with no other family members affected 45%; with other family member affected 45%. Group Sub group Signs: LABORATORY DATA chromosomal assignment chromosome 13q localization chromosomal disorders chromosomal fragility, instability, breakage chromosomal microdeletions chromosomal numerical and/or structural anomalies chromosome breakage syndromes gene, structural-functional anomalies gene analysis-DNA analysis RB1, gene chr.13q14.1-q14.2 RBBP5 (RBQ3) retinoblastoma-binding protein-5, gene chr.1q32 RBBP6 retinoblastoma-binding protein 6, gene chr.16p11.2-p12 retinal slow degeneration, gene RIZ retinoblastoma protein-binding zinc-finger protein, gene chr.1p36 NEOPLASTIC DISEASES cancer, genetic features tumour familial trait NEUROLOGICAL DISORDERS brain anomalies intracranial calcification (calcinosis) including: basal ganglia, falx cerebri calcification OCULAR DISORDERS choroidoretinal defects isolated ocular defects: vitreous/choroidoretinal/optic nerve changes retinal folds retinal tumour OTHERS inheritance inheritance, autosomal dominant PRENATAL-NEONATAL MODIFIED DATA foetal changes congenital tumour foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques prenatal diagnosis prenatal diagnosis, echographic prenatal diagnosis, molecular SKELETAL DISORDERS limb anomalies, limb defects isolated limb anomalies retinoblastoma Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: foetal changes, recognized by ultrasound techniques ISOLATED OCULAR DISORDERS isolated ocular defects: vitreous/choroidoretinal/optic nerve changes ISOLATED SKELETAL ANOMALIES NOT INCLUDING OSTEOCHONDRODYSPLASIAS isolated limb anomalies NEOPLASTIC DISORDERS tumour, congenital tumour, familial trait OTHER chromosome-breakage syndromes Differential diagnosis: Bibliography retinoblastoma 8570 11870 27791 19220 26505 22550 22620 1811 39 25110 26503 27915 encephalocele hemangioma cavernous of brain lacrimal duct cyst optic nerve glioma persistent hyperplastic primary vitreous retinal dysplasia retinoblastoma retinoma teratoma of the brain teratoma oral and cleft palate vitreoretinopathy, exudative 1 vitreoretinopathy, exudative 2 OMIM ID: 180200 OMIM ID: 601196 OMIM ID: 600697 Thompson&Thompson: Genetica in Medicina. Idelson-Gnocchi Ed. 2005, pag. lxxvi-lxxviii Peter S.Harper: Practical Genetic Counselling. 6th Ed. 2004 pag. 252-253 Birth Defects Encyclopedia Atlas of Ophthalmology- Images and Tables. Ed.Richard K.Parrish II, 1999 Annuario Orphanet-Italia delle Malattie Rare, 2005 pag. 708 J. Med. Genet. 37:e6,2000 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.32413264,2007 Page 2 of 2
