Mosaicism and phenotype in ring chromosome 20 syndrome.

Abstract excerpt

Ring chromosome 20 [r(20)] syndrome is a rare chromosomal disorder characterized by epilepsy, mild to moderate mental impairment, and malformation. Patients generally show mosaicism in 1-100% of lymphocytes with r(20). We report here a patient with r(20) syndrome who exhibited mild phenotype with the small ratio of mosaicism (13%) with r(20). Although previous small-scale studies concluded that the mosaicism...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromosome Aberrations
• Share to Chromosomes, Human, Pair 20
• Share to Intellectual Disability