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Case Reports
. 1996 Nov;50(5):426-9.
doi: 10.1111/j.1399-0004.1996.tb02401.x.

De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22-->22.1)

H B Franz  1 , M Schliephacke, G Niemann, G Mielke, C Backsch
Affiliations
Case Reports

De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22-->22.1)

H B Franz et al. Clin Genet. 1996 Nov.

Abstract

We report a boy with duplication of a small segment of the short arm of chromosome 7 (46,XY, dir dup (7) (p21.2-->22.1). The boy presented with supravalvular pulmonary stenosis, atrial septum defect and mental retardation. The origin of the additional material from chromosome 7 was confirmed by fluorescence in situ hybridization. This technique in combination with the use of single-copy DNA probes may in future help to delineate the phenotype/karyotype correlation.

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