A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

Abstract Background Because of the significant occurrence of “WAGR-region” deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases of aniridia due to its help in making an early diagnosis of WAGR syndrome. Standard cytogenetic karyotype stu...

Full description

Bibliographic Details
Main Authors: Tatyana A. Vasilyeva, Andrey V. Marakhonov, Marina E. Minzhenkova, Zhanna G. Markova, Nika V. Petrova, Natella V. Sukhanova, Philipp A. Koshkin, Denis V. Pyankov, Ilya V. Kanivets, Sergey A. Korostelev, Irina A. Krynskaya, Nadezhda V. Shilova, Sergey I. Kutsev, Vitaly V. Kadyshev, Rena A. Zinchenko
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Medical Genomics
Subjects:
Aniridia, balanced chromosomal rearrangements
Local disbalance at the breakpoints
Case report
Online Access:http://link.springer.com/article/10.1186/s12920-020-00790-1

Internet

http://link.springer.com/article/10.1186/s12920-020-00790-1

Similar Items