De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation

European Journal of Human Genetics

Volumn 19, Issue 5, 2011, Pages 507-512

  Grasshoff, Ute ^a   Bonin, Michael ^a   Goehring, Ina ^b   Ekici, Arif ^b   Dufke, Andreas ^a   Cremer, Kirsten ^c   Wagner, Nicholas ^c   Rossier, Eva ^a   Jauch, Anna ^d   Walter, Michael ^a   Bauer, Claudia ^a   Bauer, Peter ^a   Horber, Karl ^a   Beck Woedl, Stefanie ^a   Wieczorek, Dagmar ^c  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

MECP2; Mental retardation in females; X inactivation; Xq28 duplication

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ADULT; ARTICLE; CASE REPORT; CHILD; CHILD DEVELOPMENT; CHROMOSOME DUPLICATION; CHROMOSOME XQ; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MENTAL DEFICIENCY; NEUROLOGIC EXAMINATION; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; X CHROMOSOME INACTIVATION;

ADOLESCENT; CHILD; FEMALE; GENE DUPLICATION; HUMANS; MENTAL RETARDATION; METHYL-CPG-BINDING PROTEIN 2; X CHROMOSOME INACTIVATION;

EID: 79955755664     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.226     Document Type: Article

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