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Chromosome 18 Ring

Abstract

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NORD is very grateful to Shashikant Kulkarni, PhD, Director of CytoGenomics and Molecular Pathology, Director of Clinical & Molecular Cytogenetics, Department of Pathology, Washington University School of Medicine, for assistance in the preparation of this report.

Synonyms of Chromosome 18 Ring

  • r 18
  • Ring 18
  • Ring Chromosome 18

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Chromosome 18 Ring is a rare disorder in which there is loss (deletion) of genetic material from one or both ends of the 18th chromosome and joining of the chromosomal ends to form a ring. Associated symptoms and findings may vary greatly in range and severity from case to case, depending upon the amount and location of lost genetic material and other factors. A ring may also be formed without the loss of any genetic material. However, many individuals with the disorder are affected by mental retardation; low muscle tone (hypotonia); growth retardation; repeated infections during the first years of life; and/or malformations of the skull and facial (craniofacial) region. Such craniofacial features often include an unusually small head (microcephaly), widely spaced eyes (ocular hypertelorism), and/or vertical skin folds that cover the eyes' inner corners (epicanthal folds). Chromosome 18 Ring is usually caused by spontaneous (de novo) errors very early in the development of the embryo that appear to occur randomly for unknown reasons (sporadically).

Organizations related to Chromosome 18 Ring

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., mental retardation, craniofacial abnormalities, ocular defects, ear malformations and hearing impairment, etc.].)

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