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Updated: Oct 13, 2026

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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
A de novo 6q11-q15 duplication investigated by chromosome painting
D Giardino1, N Rizzi, V Briscioli
1Laboratorio di Citogenetica, Centro Auxologico Italiano, Milan.
Clinical Genetics
|November 1, 1994
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 dysmorphism, 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.
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