A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome

We describe a de novo dup 17p11 in a boy with Alport syndrome, mild mental retardation, and minor anomalies, Combining classical and molecular cytogen etics analyses, the karyotype was defined as 46,XY.ish dup (17)(p11.2p11.2) (D17S29++,D17S379+). Alport syndrome is associated with mutations in the ty pe IV alpha chain collagen gene, however, no known collagen-related gene is currently mapped to 17p11, Duplications involving 17p11.2 have been report ed in Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, and in a few s poradic patients with mental retardation and minor anomalies, however, no s ignificant clinical similarity was found among these cases and the proposit us. Further studies may clarify the meaning of the association between Alpo rt syndrome and duplications of DNA sequences mapped at 17p11.2. (C) 1999 W iley-Liss, Inc.