Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development

Cytogenetic and Genome Research

Volumn 115, Issue 1, 2006, Pages 84-89

  Schwarzbraun, T ^a   Ullmann, R ^b   Schubert, M ^b   Ledinegg, M ^a   Ofner, L ^a   Windpassinger, C ^a   Wagner, K ^a   Kroisel, P M ^a,c   Petek, E ^a  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c Medical University of Greifswald   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 11; CHROMOSOME 12; CHROMOSOME 2; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; DISEASE SEVERITY; DNA FLANKING REGION; DYSPRAXIA; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION; HUMAN; HYPERTELORISM; KARYOTYPE 46,XY; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHILTRUM; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RECIPROCAL CHROMOSOME TRANSLOCATION; SPEECH DISORDER;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BREAKAGE; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 2; CYTOGENETIC ANALYSIS; FACE; FAMILY HEALTH; HUMANS; MENTAL RETARDATION; SPEECH DISORDERS; TRANSLOCATION, GENETIC;

BACTERIA (MICROORGANISMS);

EID: 33748749964     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000094804     Document Type: Article

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