Ring chromosome 6 syndrome

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.

Psychomotor retardation

Total: 2

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PMID (PMCID)
18485670	MALE	Child
	An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion.
	Kara N, Okten G, Gunes SO, Saglam Y, Tasdemir HA, Pinarli FA. Epilepsy Res. 2008;80(2-3):219-23.
	We report an epileptic case of a 10-year-old boy to be mild psychomotor retardation and dysmorphic traits including microcephaly, brachycephaly, flat occiput, large and apparently low set ears, and bilateral syndactyly between his second and third fingers with mosaic ring chromosome 6 and 6q terminal deletion.
16053913	MIXED_SAMPLE	Adult
	Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature.
	Andrieux J, Devisme L, Valat AS, Robert Y, Frnka C, Savary JB. Eur J Med Genet. 2005;48(2):199-206.
	Ring chromosome 6 (RC6) is a rare constitutional abnormality, with variable material loss, leading to a variable clinical phenotype: minimal physical anomalies and mild psychomotor retardation to severe physical and mental defects.