First report of a partial trisomy 3q12-q23 de novo-FISH breakpoint determination and phenotypic characterization

European Journal of Medical Genetics

Volumn 49, Issue 3, 2006, Pages 225-234

  Gamerdinger, Ulrike ^a   Bosse, Kristin ^b   Eggermann, Thomas ^c   Kalscheuer, Vera ^d   Schwanitz, Gesa ^b   Engels, Hartmut ^b  

^a UNIVERSITY HOSPITAL GIESSEN   (Germany)

^b UNIVERSITY HOSPITAL BONN   (Germany)

^c RWTH AACHEN UNIVERSITY   (Germany)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Arm specific paints; Breakpoint analysis by FISH; Duplication 3q de novo; Phenotype of dup(3)(q12q23); YAC FISH probes

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 3Q; CHROMOSOME ARM; CHROMOSOME DUPLICATION; CHROMOSOME IDENTIFICATION; CLINICAL FEATURE; CONGENITAL MALFORMATION; CYTOGENETICS; EYE; EYEBROW; EYELASH; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; FRONTAL BOSSING; GENE PROBE; GROWTH RETARDATION; HIP DYSPLASIA; HUMAN; HYPERTELORISM; INFANT; MALE; MENTAL DEFICIENCY; NOSE; PARTIAL TRISOMY 3; PHENOTYPE; POSTNATAL GROWTH; YEAST ARTIFICIAL CHROMOSOME;

CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 3; CYTOGENETIC ANALYSIS; FACE; GENE DUPLICATION; HIP DISLOCATION, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; PHENOTYPE; TRISOMY;

EID: 33744514103     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.07.002     Document Type: Article

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