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Ring Chromosome 4

Abstract

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NORD is very grateful to Virginia C. Thurston, PhD, Clinical Assistant Professor, Assistant Director, Cytogenetics Division, Department of Medical and Molecular Genetics, Indiana University School of Medicine, for assistance in the preparation of this report.

Synonyms of Ring Chromosome 4

  • r(4)
  • ring 4
  • ring 4, chromosome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Ring chromosome 4 is a rare disorder that is typically characterized by loss (deletion) of genetic material from both ends of the 4th chromosome and joining of the chromosomal ends to form a ring. Associated symptoms and findings may vary greatly, depending on the location of lost genetic material and/or other factors. Some affected infants may have a low birth weight; growth retardation; delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation); an abnormally small head (microcephaly); a broad, "beaked" nose; and/or various additional physical abnormalities that are present at birth (congenital anomalies). However, cases have also been reported in which ring chromosome 4 is primarily associated with growth retardation, with no major physical anomalies and normal psychomotor development. ring chromosome 4 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 Ring Chromosome 4

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

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