Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development

European Journal of Medical Genetics

Volumn 49, Issue 5, 2006, Pages 431-438

  Karmous Benailly, Houda ^a   Giuliano, Fabienne ^a   Massol, Christophe ^a   Bloch, Catherine ^b   De Ricaud, Dominique ^b   Lambert, Jean Claude ^a   Perelman, Serge ^b  

^a CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^b Fondation Lenval Hopital pour Enfants   (France)

Author keywords

Complex chromosome rearrangement; DGS2 syndrome; HDR syndrome; Multiple congenital anomalies and mental retardation

Indexed keywords

ARTICLE; BOY; CASE REPORT; CHROMOSOME 10; CHROMOSOME 11; CHROMOSOME 16; CHROMOSOME 8; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CHROMOSOME INSERTION; CHROMOSOME NOR; CHROMOSOME REARRANGEMENT; CHROMOSOME SEGREGATION; CHROMOSOME TRANSLOCATION; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; DIGEORGE SYNDROME; GENETIC DISORDER; GENETIC IDENTIFICATION; HETEROZYGOTE DETECTION; HUMAN; INFANT; MALE; MOTHER; PARTIAL TRISOMY 10; PHENOTYPE; X CHROMOSOME LINKAGE;

EID: 33749450164     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.01.008     Document Type: Article

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