A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature

Volume: 62, Issue: 11, Pages: 103564 - 103564
Published: Nov 1, 2019
Abstract
Ring chromosome 20 syndrome is a rare chromosomal disorder characterized by childhood-onset drug-resistant epilepsy, behavioral problems and variable cognitive impairment. While most cases occur sporadically, parent-to-child transmission of ring 20 mosaicism has only been reported in a few exceptional families. We identified a further family with mother-to-child transmission of ring 20 mosaicism. Detailed characterization of the ring chromosome...
Paper Details
Title
A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature
Published Date
Nov 1, 2019
Volume
62
Issue
11
Pages
103564 - 103564
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