TY - JOUR
A1 - Abraham, Aloysius
A1 - Thirumalairaj, Kannan
A1 - Gaikwad, Namrata
A1 - Muthukkaruppan, Veerappan
A1 - Reddy, Alla
A1 - Thangaraj, Kumarasamy
A1 - Kim, Usha
A1 - Vanniarajan, Ayyasamy
T1 - Retinoblastoma discordance in families with twins
Y1 - 2019/3/1
JF - Indian Journal of Ophthalmology
JO - Indian J Ophthalmol
SP - 436
EP - 439
VL - 67
IS - 3
UR - https://journals.lww.com/ijo/pages/default.aspx/article.asp?issn=0301-4738;year=2019;volume=67;issue=3;spage=436;epage=439;aulast=Abraham
DO - 10.4103/ijo.IJO_1245_18
N2 -
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.
ER -