A de novo 6q11-q15 duplication investigated by chromosome painting.
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.
Giardino
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D
Laboratorio di Citogenetica, Centro Auxologico Italiano, Milan.
Rizzi
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N
Briscioli
V
V
Bettio
D
D
D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D002871:Chromosome Banding; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D014314:Trisomy