Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein‐Taybi syndrome
Tóm tắt
In a series of 25 Japanese patients with Rubinstein‐Taybi syndrome, we screened, by high‐resolution GTG banding and fluorescence in situ hybridization of a cosmid probe (RT1, D16S237), for microdeletions associated with this syndrome. In one patient, a microdeletion was demonstrated by in situ hybridization, but none were detected by high‐resolution banding. © 1994 Wiley‐Liss, Inc.
Từ khóa
Tài liệu tham khảo
Breuning MH, 1990, Pathogenesis of Polycystic Kidney Disease, 17
Breuning MH, 1993, Rubinstein‐Taybi syndrome caused by submicroscopic deletions within 16p13.3, Am J Hum Genet, 52, 249
Hennekam RCM, 1993, Deletion at chromosome 16p13.3 as a cause of Rubinstein‐Taybi syndrome: clinical aspects, Am J Hum Genet, 52, 255
Kurosawa K, 1993, Natural history of Rubinstein‐Taybi syndrome, J Jpn Pediatr Soc, 97, 1442