Unstable transmission of a familial complex chromosome rearrangement

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2888-2893

  Van Binsbergen, Ellen ^a   Hochstenbach, Ron ^a   Giltay, Jacques ^a   Swinkels, Marielle ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Array CGH; Complex chromosome rearrangement; Inverted duplication with a terminal deletion; Unstable transmission

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 1; CHROMOSOME 1Q; CHROMOSOME 3; CHROMOSOME 3Q; CHROMOSOME 5; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE SEVERITY; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; GENETIC COUNSELING; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MALE; MUSCLE HYPOTONIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; STRUCTURAL CHROMOSOME ABERRATION;

ADULT; CHROMOSOME BANDING; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPE; MALE; TRANSLOCATION, GENETIC;

EID: 84867884911     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35580     Document Type: Article

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