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Chromosome 22, Trisomy Mosaic

Abstract

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Synonyms of Chromosome 22, Trisomy Mosaic

  • Trisomy 22 Mosaic
  • Trisomy 22 Mosaicism Syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Chromosome 22, Trisomy Mosaic is a rare chromosomal disorder in which chromosome 22 appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 22, whereas others have the normal chromosomal pair.

The range and severity of associated symptoms and findings may vary, depending upon the percentage of cells with the chromosomal abnormality. However, characteristic features typically include growth delays, mental retardation, unequal development of the two sides of the body (hemidystrophy), and webbing of the neck. Affected individuals may also have abnormal outward deviation of the elbows upon extension (cubitus valgus), multiple pigmented moles or birthmarks (nevi), distinctive malformations of the head and facial (craniofacial) area, and other physical abnormalities.

Chromosome 22, Trisomy Mosaic Resources

Organizations:

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