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)
- Telomeric duplication Xq
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hypotonia; delayed motor milestones (i.e. sitting up, crawling); recurrent infections; poor or absent speech; seizures; and/or spasticity. MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. The condition is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person.MECP2 duplication syndrome is a genetic condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Other signs and symptoms include infantile
Last updated: 7/23/2015
- Hilde Van Esch, MD, PhD. MECP2 Duplication Syndrome. GeneReviews. October 2014; http://www.ncbi.nlm.nih.gov/books/NBK1284/.
- MECP2 Duplication Syndrome. NORD. 2013; https://rarediseases.org/rare-diseases/mecp2-duplication-syndrome/.
- Genetics Home Reference (GHR) contains information on MECP2 duplication syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about MECP2 duplication syndrome.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss MECP2 duplication syndrome. Click on the link to view a sample search on this topic.