Genetic profile of 81 retinoblastoma patients from a referral hospital in southern India.

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dc.contributor.authorHarini, Ren_US
dc.contributor.authorAta-ur-Rasheed, Men_US
dc.contributor.authorShanmugam, M Pen_US
dc.contributor.authorAmali, Jen_US
dc.contributor.authorDas, Den_US
dc.contributor.authorKumaramanickavel, Gen_US
dc.date.accessioned2001-03-13en_US
dc.date.accessioned2009-05-29T10:17:52Z
dc.date.available2001-03-13en_US
dc.date.available2009-05-29T10:17:52Z
dc.date.issued2001-03-13en_US
dc.description.abstractPURPOSE: To determine chromosomal abnormalities and inheritance pattern in patients with retinoblastoma from a referral hospital in southern India. MATERIALS AND METHODS: Eighty-one retinoblastoma patients from 78 families were included in this study. Peripheral venous blood was taken for chromosomal analysis and pedigree was ascertained for segregation analysis. RESULTS: Male to female ratio was 1.7:1, 55.56% were bilateral retinoblastoma, the mean age of onset was 12.37 months in bilateral and 33.07 months in unilateral cases (p=0.048). Majority (90.12%) had sporadic inheritance and 6.17% had autosomal dominant inheritance. In chromosomal abnormalities, 8.33% had 13q14 deletion, three cases had de novo balanced translocations. CONCLUSION: The age of onset of the disease was much earlier in the bilateral cases compared to unilateral cases. Sporadic inheritance was predominant while only a small percentage of patients had autosomal dominant inheritance. The percentage of patients with 13q14 deletion was higher than reported in the literature and three novel chromosomal translocations were observed. This is one of the largest series of cases reported from India.en_US
dc.description.affiliationDepartment of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India.en_US
dc.identifier.citationHarini R, Ata-ur-Rasheed M, Shanmugam MP, Amali J, Das D, Kumaramanickavel G. Genetic profile of 81 retinoblastoma patients from a referral hospital in southern India. Indian Journal of Ophthalmology. 2001 Mar; 49(1): 37-42en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/72530
dc.language.isoengen_US
dc.source.urihttps://www.ijo.inen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAge of Onseten_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshChromosomes, Human, Pair 13 --geneticsen_US
dc.subject.meshCytogenetic Analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshIndia --epidemiologyen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMaleen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPrevalenceen_US
dc.subject.meshReferral and Consultation --statistics & numerical dataen_US
dc.subject.meshRetinal Neoplasms --epidemiologyen_US
dc.subject.meshRetinoblastoma --epidemiologyen_US
dc.subject.meshRetrospective Studiesen_US
dc.subject.meshTranslocation, Genetic --geneticsen_US
dc.titleGenetic profile of 81 retinoblastoma patients from a referral hospital in southern India.en_US
dc.typeComparative Studyen_US
dc.typeJournal Articleen_US
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