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Chromosome 22 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 22 Ring

  • r(22)
  • Ring 22
  • Ring 22, Chromosome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Chromosome 22 Ring is a rare disorder characterized by abnormalities of the 22nd chromosome. Associated symptoms and findings may be extremely variable from case to case. However, the disorder is typically associated with moderate to severe mental retardation. Some affected individuals may also have relatively mild, nonspecific physical (i.e., dysplastic) features, whereas others may have more distinctive, potentially severe physical abnormalities. According to reports in the medical literature, common findings include diminished muscle tone (hypotonia) and motor incoordination; an unsteady manner of walking (gait); pronounced verbal delays; and/or certain malformations of the skull and facial (craniofacial) region. Such craniofacial abnormalities may include an unusually small head (microcephaly); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); unusually large ears; and/or other malformations. Chromosome 22 Ring is usually caused by spontaneous or "de novo" errors very early in the development of the embryo that appear to occur randomly for unknown reasons.

Organizations related to Chromosome 22 Ring

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., mental retardation, etc.].)

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