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Genetic profile of 81 retinoblastoma patients from a referral hospital in southern India.
Indian J Ophthalmol ; 2001 Mar; 49(1): 37-42
Article Dans Anglais | IMSEAR | ID: sea-72530
ABSTRACT

PURPOSE:

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 1.71, 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.
Sujets)
Texte intégral: Disponible Indice: IMSEAR (Asie du Sud-Est) Sujet Principal: Pedigree / Orientation vers un spécialiste / Rétinoblastome / Translocation génétique / Chromosomes humains de la paire 13 / Femelle / Humains / Mâle / Nouveau-né / Enfant Type d'étude: Étude observationnelle / Étude de prévalence Pays comme sujet: Asie langue: Anglais Texte intégral: Indian J Ophthalmol Année: 2001 Type: Article

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Texte intégral: Disponible Indice: IMSEAR (Asie du Sud-Est) Sujet Principal: Pedigree / Orientation vers un spécialiste / Rétinoblastome / Translocation génétique / Chromosomes humains de la paire 13 / Femelle / Humains / Mâle / Nouveau-né / Enfant Type d'étude: Étude observationnelle / Étude de prévalence Pays comme sujet: Asie langue: Anglais Texte intégral: Indian J Ophthalmol Année: 2001 Type: Article