Partial Xp11.23-p11.4 duplication with random X inactivation: Clinical report and molecular cytogenetic characterization

American Journal of Medical Genetics, Part A

Volumn 146, Issue 10, 2008, Pages 1325-1329

  Monnot, Sophie ^a   Giuliano, Fabienne ^a   Massol, Christophe ^a   Fossoud, Catherine ^a   Cossée, Mireille ^b   Lambert, Jean Claude ^a   Karmous Benailly, Houda ^a  

^a CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

Author keywords

Random X inactivation; X chromosome structural anomaly; Xp disomy; Xp duplication

Indexed keywords

ANDROGEN RECEPTOR;

ANTEVERTED NOSTRIL; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME DUPLICATION; CHROMOSOME XP; CYTOGENETICS; DEVELOPMENTAL DISORDER; DISOMY; FOREHEAD; HEAD CIRCUMFERENCE; HUMAN; LANGUAGE DISABILITY; MALE; MOLECULAR GENETICS; PALPEBRAL FISSURE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; CRANIOFACIAL ABNORMALITIES; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PHENOTYPE; SEX CHROMOSOME ABERRATIONS; X CHROMOSOME INACTIVATION;

EID: 43049095702     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32238     Document Type: Article

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