Ring chromosome 6: Case report and review of literature

K. R. Kini, D. L. Van Dyke, L. Weiss, M. S. Logan

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)145-149
Number of pages5
JournalHuman genetics
Volume50
Issue number2
DOIs
StatePublished - Aug 1979

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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