Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene

Journal of Human Genetics

Volumn 51, Issue 2, 2006, Pages 141-146

  Ofner, Lisa ^a   Raedle, Jochen ^b   Windpassinger, Christian ^a   Schwarzbraun, Thomas ^a   Kroisel, Peter M ^c   Wagner, Klaus ^a   Petek, Erwin ^a  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b SAARLAND UNIVERSITY   (Germany)

^c Institute of Human Genetics   (Germany)

Author keywords

APC gene; BAC; Chromosome 5q; Deletion; FISH

Indexed keywords

ADULT; ANTEVERTED NOSTRIL; ARTICLE; CHILD; CHROMOSOME 5Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 5; EPICANTHUS; FEMALE; FINGER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC COUNSELING; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; INNER EAR MALFORMATION; MOLECULAR CLONING; MONOSOMY; MORPHOLOGICAL TRAIT; MUSCLE HYPOTONIA; PHENOTYPE; PIGEON THORAX; SHORT NOSE; SUBCUTANEOUS FAT; TELANGIECTASIA;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, ARTIFICIAL, YEAST; CHROMOSOMES, HUMAN, PAIR 5; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; FEMALE; GENES, APC; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PEDIGREE; PHENOTYPE;

COLUMBA;

EID: 31544452564     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0333-x     Document Type: Article

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