De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22→22.1)
作者： H. B.G. Franz , M. Schliephacke , G. Niemann , G. Mielke , C. Backsch
DOI: 10.1111/J.1399-0004.1996.TB02401.X
关键词: Genetics 、 Gene duplication 、 Fluorescence in situ hybridization 、 Molecular biology 、 Tandem exon duplication 、 Cytogenetics 、 Chromosome 7 (human) 、 Biology 、 Hybridization probe 、 Karyotype 、 dup
摘要: We report a boy with duplication of small segment the short arm chromosome 7 (46,XY, dir dup (7) (p21.2-->22.1). The presented supravalvular pulmonary stenosis, atrial septum defect and mental retardation. origin additional material from was confirmed by fluorescence in situ hybridization. This technique combination use single-copy DNA probes may future help to delineate phenotype/karyotype correlation.
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