A de novo 6q11—q15 duplication investigated by chromosome painting
- 1 November 1994
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 46 (5) , 377-379
- https://doi.org/10.1111/j.1399-0004.1994.tb04183.x
Abstract
A de novo interstitial duplication of the 6q11—q15 chromosome region, confirmed by the application of a chromosome 6 painting probe, was observed in a patient with craniofacial dymorphism, psychomotor retardation, cryptorchidism and hypospadias. Despite the publication of several cases showing partial trisomy 6q, to our knowledge the duplication of the proximal region q11‐q15 has not previously been reported.Keywords
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