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.

Chromosome breakage

Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.

Total: 5

(per page)

PMID (PMCID)
23640512	MALE	Child
	Retinoblastoma with unusual association of postaxial polydactyly.
	Mishra D, Ranjan P, Sinha BP, Baijal V, Bhadauria M. Eur J Ophthalmol. 2013;23(5):776-8.
	The unusual associations reported with retinoblastoma are well-differentiated liposarcoma and lipomatous tissues, chromosome breakage syndromes, and the myriad findings of rare 13q deletion syndrome.8233 Case report.8233 An 8-year-old boy presented with features of retinoblastoma, having leucocoria in the left eye and an unusual association of postaxial polydactyly in the left hand.8233 Postaxial polydactyly should be considered as an association of retinoblastoma.
23640512	MALE	Child
	Retinoblastoma with unusual association of postaxial polydactyly.
	Mishra D, Ranjan P, Sinha BP, Baijal V, Bhadauria M. Eur J Ophthalmol. 2013;23(5):776-8.
	The unusual associations reported with retinoblastoma are well-differentiated liposarcoma and lipomatous tissues, chromosome breakage syndromes, and the myriad findings of rare 13q deletion syndrome.8233 Case report.8233 An 8-year-old boy presented with features of retinoblastoma, having leucocoria in the left eye and an unusual association of postaxial polydactyly in the left hand.8233 Postaxial polydactyly should be considered as an association of retinoblastoma.
23640512	MALE	Child
	Retinoblastoma with unusual association of postaxial polydactyly.
	Mishra D, Ranjan P, Sinha BP, Baijal V, Bhadauria M. Eur J Ophthalmol. 2013;23(5):776-8.
	The unusual associations reported with retinoblastoma are well-differentiated liposarcoma and lipomatous tissues, chromosome breakage syndromes, and the myriad findings of rare 13q deletion syndrome.8233 Case report.8233 An 8-year-old boy presented with features of retinoblastoma, having leucocoria in the left eye and an unusual association of postaxial polydactyly in the left hand.8233 Postaxial polydactyly should be considered as an association of retinoblastoma.
7554365	FEMALE	Infant, Newborn
	Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings.
	Gibbons B, Scott D, Hungerford JL, Cheung KL, Harrison C, Attard-Montalto S, Evans M, Birch JM, Kingston JE. Clin Genet. 1995;47(6):311-7.
	The second child exhibited a pattern of chromosome breakage characteristic of Bloom's syndrome, in addition to a moderate increase in damage induced by mytomycin-C. She had the typical stunted growth and malar hypoplasia of Bloom's syndrome although she did not demonstrate the frequently described erythematous 'butterfly rash' Although patients with Fanconi's anaemia and Bloom's syndrome are recognised to be at an increased risk of cancer, retinoblastoma has not previously been described in patients with either condition.
7554365	FEMALE	Infant, Newborn
	Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings.
	Gibbons B, Scott D, Hungerford JL, Cheung KL, Harrison C, Attard-Montalto S, Evans M, Birch JM, Kingston JE. Clin Genet. 1995;47(6):311-7.
	Two children presenting with sporadic unilateral retinoblastoma and exhibiting a high degree of chromosome breakage were noted to have unusual facies, microcephaly and abnormal skin pigmentation.