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

• Main Authors: Tatyana A. Vasilyeva (Author), Andrey V. Marakhonov (Author), Marina E. Minzhenkova (Author), Zhanna G. Markova (Author), Nika V. Petrova (Author), Natella V. Sukhanova (Author), Philipp A. Koshkin (Author), Denis V. Pyankov (Author), Ilya V. Kanivets (Author), Sergey A. Korostelev (Author), Irina A. Krynskaya (Author), Nadezhda V. Shilova (Author), Sergey I. Kutsev (Author), Vitaly V. Kadyshev (Author), Rena A. Zinchenko (Author)
• Format: Book
• Published: BMC, 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 kar...