De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22→22.1)
- 1 November 1996
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 50 (5) , 426-429
- https://doi.org/10.1111/j.1399-0004.1996.tb02401.x
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.Keywords
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