Ring chromosome 6: Case report and review of literature

✍ Scribed by K. R. Kini; D. L. Dyke; L. Weiss; M. S. Logan

• Publisher: Springer
• Year: 1979
• Tongue: English
• Weight: 240 KB
• Volume: 50
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00390235

✦ Synopsis

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 micrognathim Linkage studies, including HLA, are consistent with reported maps of chromosome 6.