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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Chromosome Xq duplication


Other Names for this Disease
  • Duplication Xq
  • Partial trisomy Xq
  • Trisomy Xq
  • Xq duplication
  • Xq trisomy
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What are the signs and symptoms of chromosome Xq duplication?

The signs and symptoms of a chromosome Xq duplication vary significantly depending on the size of the duplication, the sex of the affected person, and the genes found on the duplicated segment of the chromosome. In general, males with a chromosome Xq duplication are generally more severely affected than females with the duplication. Common features that may be shared by males with this duplication include:[1]
Many females with this duplication do not have any signs or symptoms of the duplication or are only affected with short stature. However, some may be just as severely affected as males with the condition.[2][3]
Last updated: 2/27/2015

References
  1. Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD.. Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review. Am J Med Genet A. June 2005; 135(3):308-313.
  2. Armstrong L, McGowan-Jordan J, Brierley K, Allanson JE.. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype. Am J Med Genet A. January 2003; 116A(1):71-76.
  3. Donnelly DE1, Jones J, McNerlan SE, McGrattan P, Humphreys M, McKee S.. Growth retardation, developmental delay and dysmorphic features in a girl with a partial duplication of Xq. Clin Dysmorphol. April 2011; 20(2):82-85.


Other Names for this Disease
  • Duplication Xq
  • Partial trisomy Xq
  • Trisomy Xq
  • Xq duplication
  • Xq trisomy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.