Towards mapping phenotypical traits in 18p-syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation

European Journal of Human Genetics

Volumn 15, Issue 1, 2007, Pages 35-44

  Brenk, Christian H ^a   Prott, Eva Christina ^b   Trost, Detlef ^a   Hoischen, Alexander ^a   Walldorf, Constanze ^a   Radlwimmer, Bernhard ^c   Wieczorek, Dagmar ^b   Propping, Peter ^a   Gillessen Kaesbach, Gabriele ^b,d   Weber, Ruthild G ^a   Engels, Hartmut ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHROMOSOME 18P; CHROMOSOME ABERRATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FACIES; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MAPPING; GENETIC TRAIT; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HUMAN; KARYOTYPING; MALE; MENTAL DEFICIENCY; NECK MALFORMATION; PARTIAL MONOSOMY; PARTIAL TRISOMY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SEIZURE; TRISOMY 18;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 20; FACE; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MENTAL RETARDATION; PHENOTYPE; SYNDROME; TRANSLOCATION, GENETIC;

EID: 33845518298     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201718     Document Type: Article

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