De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation

Cytogenetic and Genome Research

Volumn 135, Issue 2, 2011, Pages 93-101

  Mayo, S ^a   Monfort, S ^a   Rosello M ^a   Orellana, C ^a   Oltra, S ^a,b   Armstrong, J ^c   Catala V ^d   Martinez F ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b UNIVERSITY OF VALENCIA   (Spain)

^c HOSPITAL SANT JOAN DE DÉU   (Spain)

^d Prenatal Genetics   (Spain)

Author keywords

Array CGH; MECP2 duplication syndrome; Mental retardation; Rett syndrome; Xq28 triplication

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME XQ; DEVELOPMENTAL DISORDER; FACE MALFORMATION; FEMALE; GENE; GENE DUPLICATION; HETEROZYGOSITY; HUMAN; INFANTILE HYPOTONIA; LANGUAGE DISABILITY; MECP2 GENE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; PHENOTYPE; PHYLOGENY; PRIORITY JOURNAL; RECURRENT INFECTION; SCHOOL CHILD; SPASTICITY; SPEECH DISORDER; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; CHILD; DEVELOPMENTAL DISABILITIES; FACE; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION, X-LINKED; METHYL-CPG-BINDING PROTEIN 2; SYNDROME; X CHROMOSOME INACTIVATION;

EID: 80054878226     PISSN: 14248581     EISSN: 14219794     Source Type: Journal    
DOI: 10.1159/000330917     Document Type: Article

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