Ring chromosome 6: case report and review of literature.
A ring chromosome 6 has been identified by GTG-banding in a male with microcephaly, growth retardation, seizures, epicanthus, hypertelorism, micrognathia, and other congenital anomalies. Cytogenetic studies indicate the instability of the ring chromosome. The most common findings in subjects with ring 6 include: profound to moderate mental retardation, microcephaly, prenatal growth failure, retarded bone age, epicanthal folds, flat nasal bridge, short neck, ears low-set or malformed, microphthalmia, and micrognathia. Linkage studies, including HLA, are consistent with reported maps of chromosome 6.
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D012640:Seizures / Q000235:genetics*; D013577:Syndrome