Retinoblastoma discordance in families with twins
Indian J Ophthalmol
;
2019 Mar; 67(3): 436-439
Artigo
| IMSEAR
| ID: sea-197175
ABSTRACT
Retinoblastoma has an increased inheritance risk of germline RB1 mutations in offspring and siblings, especially twins. Three families, each having one retinoblastoma-affected twin, were selected for genetic analysis and DNA profiling. Germline RB1 mutations were found in all probands. DNA profiling carried on similar-looking twins of families I and II, proved them to be fraternal. This study demonstrates the importance of genetic analysis of RB1 gene for risk prediction in retinoblastoma families. It also emphasizes that DNA profiling is a mandate for genetic screening of families with twins, thus adding a new dimension in counseling of retinoblastoma.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Tipo de estudo:
Estudo prognóstico
Revista:
Indian J Ophthalmol
Ano de publicação:
2019
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS