Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Mutations in the MECP2 gene are associated with Rett syndrome, an X-linked mental retardation disorder in females. Mutations also cause variable neurodevelopmental phenotypes in rare affected males. Recent clinical testing for MECP2 gene rearrangements revealed that entire MECP2 gene duplication occ...

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Veröffentlicht in:	Genetics in medicine 2006-12, Vol.8 (12), p.784-792
Hauptverfasser:	del Gaudio, Daniela, Fang, Ping, Scaglia, Fernando, Ward, Patricia A, Craigen, William J, Glaze, Daniel G, Neul, Jeffrey L, Patel, Ankita, Lee, Jennifer A, Irons, Mira, Berry, Susan A, Pursley, Amber A, Grebe, Theresa A, Freedenberg, Debra, Martin, Rick A, Hsich, Gary E, Khera, Jena R, Friedman, Neil R, Zoghbi, Huda Y, Eng, Christine M, Lupski, James R, Beaudet, Arthur L, Cheung, Sau Wai, Roa, Benjamin B
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Child Child, Preschool Chromosome Aberrations Chromosomes, Human, X Developmental Disabilities - genetics Gene Dosage Gene Duplication Genetic Testing Humans Infant Male Methyl-CpG-Binding Protein 2 - genetics
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