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 Citations (Scopus)

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

Fingerprint

Micrognathism
Microcephaly
Ring Chromosomes
Hypertelorism
Microphthalmos
Chromosomes, Human, Pair 6
Growth
Nose
Cytogenetics
Intellectual Disability
Ear
Seizures
Neck
Bone and Bones
Chromosome 6 ring syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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.

Ring chromosome 6 : Case report and review of the literature. / Kini, K. R.; Van Dyke, D. L.; Weiss, L.; Logan, M. S.

In: Human Genetics, Vol. 50, No. 2, 1979, p. 145-149.

Research output: Contribution to journalArticle

Kini, KR, Van Dyke, DL, Weiss, L & Logan, MS 1979, 'Ring chromosome 6: Case report and review of the literature', Human Genetics, vol. 50, no. 2, pp. 145-149.
Kini KR, Van Dyke DL, Weiss L, Logan MS. Ring chromosome 6: Case report and review of the literature. Human Genetics. 1979;50(2):145-149.
Kini, K. R. ; Van Dyke, D. L. ; Weiss, L. ; Logan, M. S. / Ring chromosome 6 : Case report and review of the literature. In: Human Genetics. 1979 ; Vol. 50, No. 2. pp. 145-149.
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