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Diseases

Genetic and Rare Diseases Information Center (GARD)

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MECP2 duplication syndrome


Other Names for this Disease
  • Distal duplication Xq
  • Lubs X-linked mental retardation syndrome (formerly)
  • Mental retardation, X-linked, Lubs type (formerly)
  • MRXSL
  • Telomeric duplication Xq
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Tests & Diagnosis

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How is MECP2 duplication syndrome diagnosed?

A diagnosis of MECP2 duplication syndrome is often suspected based on the presence of characteristic signs and symptoms. Genetic testing can then be ordered to confirm the diagnosis.[1]
Last updated: 7/23/2015

References
  1. Hilde Van Esch, MD, PhD. MECP2 Duplication Syndrome. GeneReviews. October 2014; http://www.ncbi.nlm.nih.gov/books/NBK1284/.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Distal duplication Xq
  • Lubs X-linked mental retardation syndrome (formerly)
  • Mental retardation, X-linked, Lubs type (formerly)
  • MRXSL
  • Telomeric duplication Xq
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.