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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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Overview

Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication; the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, and distinctive craniofacial features.[1] Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition.[2][3] Most cases are inherited in an autosomal dominant manner, often from a mother with no signs or symptoms of the condition.[1] Treatment is symptomatic.[4]
Last updated: 3/2/2015

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.
  4. Sanlaville D, Schluth-Bolard C, Turleau C.. Distal Xq duplication and functional Xq disomy. Orphanet J Rare Dis. February 2009; 4:4.
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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.