Ontology highlight
ABSTRACT:
SUBMITTER: Vasilyeva TA
PROVIDER: S-EPMC7499969 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Vasilyeva Tatyana A TA Marakhonov Andrey V AV Minzhenkova Marina E ME Markova Zhanna G ZG Petrova Nika V NV Sukhanova Natella V NV Koshkin Philipp A PA Pyankov Denis V DV Kanivets Ilya V IV Korostelev Sergey A SA Krynskaya Irina A IA Shilova Nadezhda V NV Kutsev Sergey I SI Kadyshev Vitaly V VV Zinchenko Rena A RA
BMC medical genomics 20200918 Suppl 8
<h4>Background</h4>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 study is a necessary step of molecular diagnostics in patients with deletions and in the patients' parents as it reveals complex chromosomal rearrangements and the risk of having another affected child, a ...[more]