ring chromosome 17
Synopsis
hypotonia
dysmorphia (facial dysmorphism)
mild-to-moderate mental retardation
Variants
mosaic ring chromosome 17 (#12774038#)
References
Dupont C, Pipiras E, Chantot-Bastaraud S, Verloes A, Baumann C, Wolf JP, Benzacken B. CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature. Eur J Hum Genet. 2003 Jun;11(6):452-6. PMID: #12774038#