Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Ring chromosomes > ring chromosome 17

ring chromosome 17

Wednesday 5 November 2008

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#