Genetic profile of 81 retinoblastoma patients from a referral hospital in southern India.
OBJECTIVE
To determine chromosomal abnormalities and inheritance pattern in patients with retinoblastoma from a referral hospital in southern India.


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.


CONCLUSIONS
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.
Harini
R
R
Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India.
Ata-ur-Rasheed
M
M
Shanmugam
M P
MP
Amali
J
J
Das
D
D
Kumaramanickavel
G
G
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D015995:Prevalence; D012017:Referral and Consultation / Q000706:statistics & numerical data; D019572:Retinal Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D012175:Retinoblastoma / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D012189:Retrospective Studies; D014178:Translocation, Genetic / Q000235:genetics