Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion

European Journal of Human Genetics

Volumn 15, Issue 5, 2007, Pages 548-555

  Knijnenburg, Jeroen ^a   van Haeringen, Arie ^a   Hansson, Kerstin B M ^a   Lankester, Arjan ^a   Smit, Margot J M ^b   Belfroid, René D M ^a   Bakker, Egbert ^a   Rosenberg, Carla ^c   Tanke, Hans J ^a   Szuhai, Károly ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b JULIANA CHILDREN S HOSPITAL   (Netherlands)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

OLIGONUCLEOTIDE;

ACROCENTRIC CHROMOSOME; ARTICLE; CASE REPORT; CHROMOSOME 14; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; HUMAN; HUMAN CELL; KARYOTYPING; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MOLECULAR CLONING; PHENOTYPE; PRIORITY JOURNAL; RING CHROMOSOME; SCHOOL CHILD; TELOMERE;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 14; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; RING CHROMOSOMES; SEQUENCE DELETION;

EID: 34247639066     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201807     Document Type: Article

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