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Case Reports
Developmental Abnormalities Associated with a Ring Chromosome 6
  1. C. M. Moore**,
  2. R. H. Heller,
  3. G. H. Thomas
  1. Department of Pediatrics, The Johns Hopkins University School of Medicine, The John F. Kennedy Institute, Baltimore, Maryland, USA
  2. The Genetic Counselling Clinic, Sinai Hospital, Baltimore, Maryland, USA

    Abstract

    A clinical and cytogenetic report is made of a patient with microcephaly, peculiar facies, and retardation of physical and mental development, who possesses a karyotype containing a ring chromosome No. 6 identified by Q-staining with quinacrine mustard. This is the first report of a ring autosome in the C group to be identified. Comparison with other patients reported as having C-group autosomal rings failed to reveal many common phenotypic characteristics.

    http://dx.doi.org/10.1136/jmg.10.3.299

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      Footnotes

      • ↵** Present address: Program in Pediatrics, University of Texas Medical School at Houston, Freeman Building, Texas Medical Center, Houston, Texas, 77025, USA.

        This study was supported by project grant No. 917 from Maternal and Child Health Services, Department of Health, Education, and Welfare.

      • ↵* Reprint requests to: Dr Charleen M. Moore, Program in Pediatrics, University of Texas Medical School at Houston, Freeman Building, Texas Medical Center, Houston, Texas 77025, USA.