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Chromosome 9 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 9 Ring

  • R9
  • Ring 9
  • Ring 9, Chromosome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Chromosome 9 Ring is a rare disorder in which there is loss (deletion) of chromosomal material from both ends of the 9th chromosome and joining of the ends to form a ring. Associated symptoms and findings may vary, depending upon the amount and location of lost chromosomal material and other factors. Some affected individuals may have variable malformations of the skull and facial (craniofacial) region. However, in others with the chromosomal abnormality, such features may not be apparent. Chromosome 9 Ring may also be characterized by additional physical features in some cases, including growth retardation, heart defects, genital abnormalities, and/or other findings. In addition, many affected individuals have moderate to severe mental retardation; however, in some instances, intelligence may be in the low normal range. Chromosome 9 Ring usually appears to result from spontaneous (de novo) errors very early in the development of the embryo that occur for unknown reasons (sporadically).

Organizations related to Chromosome 9 Ring

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

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