Retinoblastoma management in 13q deletion syndrome patients using super‐selective chemotherapies and other cancer‐directed interventions

2020 ◽  
Author(s):  
Lucy V. Cobbs ◽  
Jasmine H. Francis ◽  
Ira J. Dunkel ◽  
Y. Pierre Gobin ◽  
Scott E. Brodie ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
13Q Deletion

scholarly journals Chromosome 13q deletion syndrome involving 13q31-qter: A case report

2017 ◽  
Vol 15 (6) ◽  
pp. 3658-3664 ◽  
Author(s):  
Yue-Ping Wang ◽  
Da-Jia Wang ◽  
Zhi-Bin Niu ◽  
Wan-Ting Cui
Keyword(s):  
Case Report ◽  
Deletion Syndrome ◽  
Chromosome 13Q ◽  
13Q Deletion

Retinoblastoma and the 13q Deletion Syndrome

2001 ◽  
Vol 38 (4) ◽  
pp. 247-250
Author(s):  
Anuradha Ganesh ◽  
Ravinder K Kenue ◽  
Sandip Mitra
Keyword(s):  
Deletion Syndrome ◽  
13Q Deletion

Secondary Burkitt lymphoma in a retinoblastoma patient with 13q deletion syndrome

2006 ◽  
Vol 46 (4) ◽  
pp. 524-526 ◽  
Author(s):  
Suradej Hongeng ◽  
Surapan Parapakpenjun ◽  
Samart Pakakasama ◽  
Busaba Rerkamnuaychoke ◽  
Ratanaporn Pornkul
Keyword(s):  
Burkitt Lymphoma ◽  
Deletion Syndrome ◽  
Retinoblastoma Patient ◽  
13Q Deletion

Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34

2015 ◽  
Vol 37 (7) ◽  
pp. 714-718 ◽  
Author(s):  
Masakazu Mimaki ◽  
Takashi Shiihara ◽  
Mio Watanabe ◽  
Kyoko Hirakata ◽  
Satoru Sakazume ◽  
...  
Keyword(s):  
Critical Region ◽  
Cerebellar Vermis ◽  
Deletion Syndrome ◽  
13Q Deletion

scholarly journals 13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1318
Author(s):  
Flavia Privitera ◽  
Arianna Calonaci ◽  
Gabriella Doddato ◽  
Filomena Tiziana Papa ◽  
Margherita Baldassarri ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Critical Region ◽  
Deletion Syndrome ◽  
Rb1 Gene ◽  
Psychomotor Delay ◽  
Contiguous Gene ◽  
Critical Regions ◽  
Neurodevelopmental Phenotype ◽  
13Q Deletion

Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation of the RB1 gene (13q14). About 10% of cases are due to gross-sized molecular deletions. The deletions can involve the surrounding genes delineating a contiguous gene syndrome characterized by RB, developmental anomalies, and peculiar facial dysmorphisms. Overlapping deletions previously found by traditional and/or molecular cytogenetic analysis allowed to define some critical regions for intellectual disability (ID) and multiple congenital anomalies, with key candidate genes. In the present study, using array-CGH, we characterized seven new patients with interstitial 13q deletion involving RB1. Among these cases, three patients with medium or large 13q deletions did not present psychomotor delay. This allowed defining a minimal critical region for ID that excludes the previously suggested candidate genes (HTR2A, NUFIP1, PCDH8, and PCDH17). The region contains 36 genes including NBEA, which emerged as the candidate gene associated with developmental delay. In addition, MAB21L1, DCLK1, EXOSC8, and SPART haploinsufficiency might contribute to the observed impaired neurodevelopmental phenotype. In conclusion, this study adds important novelties to the 13q deletion syndrome, although further studies are needed to better characterize the contribution of different genes and to understand how the haploinsufficiency of this region can determine ID.

Cochlear implantation in 13q deletion syndrome

2014 ◽  
Vol 35 (1) ◽  
pp. 56-58 ◽  
Author(s):  
Angela Haskins ◽  
Alex Caten ◽  
Brian J. McKinnon
Keyword(s):  
Cochlear Implantation ◽  
Deletion Syndrome ◽  
13Q Deletion

13q Deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins

2012 ◽  
Vol 22 (5) ◽  
pp. 857-860 ◽  
Author(s):  
Sonia De Francesco ◽  
Paolo Galluzzi ◽  
Alessandra Del Longo ◽  
Elena Piozzi ◽  
Alessandra Renieri ◽  
...  
Keyword(s):  
Monozygotic Twins ◽  
Deletion Syndrome ◽  
13Q Deletion
Sign in / Sign up

Export Citation Format

Share Document