Identification and molecular characterization of a small 11q23.3 De novo duplication in a patient with Rett syndrome manifestations

American Journal of Medical Genetics

Volumn 80, Issue 3, 1998, Pages 273-280

  Delobel, Bruno ^a   Delannoy, Valérie ^b   Pini, Giorgio ^c   Zapella, Michele ^d   Tardieu, Marc ^e   Vallée, Louis ^f   Croquette, Marie F ^a  

^a HÔPITAL SAINT ANTOINE   (France)

^b INSTITUT PASTEUR DE LILLE   (France)

^c UO di Neuropsichiatria Infantile   (Italy)

^d Policlinico Le Scotte   (Italy)

^e BICÊTRE HOSPITAL   (France)

^f LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Dup(11q) syndrome; Molecular cytogenetic analysis; Rett syndrome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME DUPLICATION; COSMID; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; PLASMID; PRIORITY JOURNAL; RETT SYNDROME; YEAST ARTIFICIAL CHROMOSOME;

ADULT; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; GENE DUPLICATION; HUMANS; RETT SYNDROME;

EID: 0031785614     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981116)80:3<273::AID-AJMG19>3.0.CO;2-6     Document Type: Article

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