Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein‐Taybi syndrome

Wiley - Tập 53 Số 4 - Trang 352-354 - 1994
Mitsuo Masuno1, Kiyoshi Imaizumi1, K Kurosawa1, Yoshio Makita1, Fred Petrij2, Hans G. Dauwerse2, M.H. Breuning2, Yoshikazu Kuroki1
1Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan
2Department of Human Genetics, Leiden University, Sylvius Laboratories, Leiden, The Netherlands

Tóm tắt

AbstractIn 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.

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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

10.1002/ajmg.1320370610

Hennekam RCM, 1993, Deletion at chromosome 16p13.3 as a cause of Rubinstein‐Taybi syndrome: clinical aspects, Am J Hum Genet, 52, 255

10.1002/ajmg.1320380430

10.1111/j.1399-0004.1993.tb04468.x

Kurosawa K, 1993, Natural history of Rubinstein‐Taybi syndrome, J Jpn Pediatr Soc, 97, 1442

10.1002/ajmg.1320460309

10.1159/000133319

10.1007/BF00205165

10.1002/ajmg.1320440223

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Wiley

Tập 53 Số 4

352-354

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