De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation

Clinical Dysmorphology

Volumn 18, Issue 1, 2009, Pages 9-12

  Velinov, Milen ^a,b   Novelli, Antonio ^c   Gu, Hong ^a   Fenko, Michael ^a   Dolzhanskaya, Natalia ^a   Bernardini, Laura ^c   Capalbo, Anna ^c   Dallapiccola, Bruno ^c   Jenkins, Edmund C ^a   Brown, W Ted ^a  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2; NERVE CELL ADHESION MOLECULE L1;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME XQ; CLINICAL FEATURE; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPING; MALE; MENTAL DEFICIENCY; OUTCOME ASSESSMENT; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, X; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; METHYL-CPG-BINDING PROTEIN 2; NEURAL CELL ADHESION MOLECULE L1;

EID: 58149234177     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3283157cad     Document Type: Article

References (9)

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