Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.
Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman.
Hockner M, Utermann B, Erdel M, Fauth C, Utermann G, Kotzot D. Am J Med Genet A. 2008;146A(7):925-9.
Here, we report on a 25-year-old woman with short stature, minor scoliosis, normal fertility, appropriate psychomotor development, minor dysmorphisms, and a de novo ring chromosome 6.
