Ring chromosome 6: Case report and review of the literature

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

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

A ring chromosome 6 has been identified by GTG-binding 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
StatePublished - 1979
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Kini, K. R., Van Dyke, D. L., Weiss, L., & Logan, M. S. (1979). Ring chromosome 6: Case report and review of the literature. Human Genetics, 50(2), 145-149.