Pure familial 6q21q22.1 duplication in two generations

European Journal of Medical Genetics

Volumn 50, Issue 1, 2007, Pages 60-65

  Pazooki, Mohammad ^a   Lebbar, Aziza ^a,b   Roubergues, Anne ^c   Baverel, Francoise ^a,b   Letessier, Dominique ^a   Dupont, Jean Michel ^a,b  

^a université Paris Cité   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

Chromosome 6q duplication; In situ hybridization; Mental retardation; Partial trisomy 6q

Indexed keywords

AGING; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHILD; CHROMOSOME 6Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME MOSAICISM; CLINICAL FEATURE; EXTRACHROMOSOMAL INHERITANCE; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; GENOME IMPRINTING; HUMAN; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; KARYOTYPE PHENOTYPE CORRELATION; KARYOTYPING; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; PARTIAL TRISOMY; PHENOTYPE;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 6; FACIAL BONES; FEMALE; GENE DUPLICATION; HUMANS; MALE; MENTAL RETARDATION; TREMOR;

EID: 33846322197     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.09.002     Document Type: Article

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