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A de novo 6q11—q15 duplication investigated by chromosome painting
Author(s) -
Giardino D.,
Rizzi N.,
Briscioli V.,
Bettio D.
Publication year - 1994
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1994.tb04183.x
Subject(s) - gene duplication , craniofacial , hypospadias , genetics , psychomotor retardation , chromosome , trisomy , biology , medicine , pathology , gene , alternative medicine
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.