ring chromosome 14 true This is a rare chromosomal disorder, consistently associated with epilepsy. The epilepsy is usually of early onset and seizures are intractable but there are no recognized distinctive seizure or electrographic features. Focal seizures facilitated during febrile illness and Ohtahara syndrome have been reported associated with this chromosomal abnormality. Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities (cataract, retinal pigmentation, macular abnormality) occur. Most cases are sporadic, but familial cases have been reported. Most patients are mosaic for ring 14 abnormality. To diagnose this disorder a karyotype should be performed examining 50-100 mitoses, this has to be specifically requested, as it may not be part of routine karyotype assessment. CGH microarray may not detect this disorder if no deletion occurs in the ring formation. chromosome 14 ring MESH:C535487 RING chromosome 14 syndrome GARD:0006072 ICD10:Q93.2 ICD9:758.89 OMIM:616606 UMLS:CN233170 Ring chromosome type 14 Orphanet:1440 MONDO:0014708 Ring 14 Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. SCTID:702345009 chromosomal anomaly