Summary
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.
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References
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This study was supported in part by grant number 1-442 from the National Foundation — March of Dimes
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Kini, K.R., Van Dyke, D.L., Weiss, L. et al. Ring chromosome 6: Case report and review of literature. Hum Genet 50, 145–149 (1979). https://doi.org/10.1007/BF00390235
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DOI: https://doi.org/10.1007/BF00390235