de Ravel T J L, Vermeesch J R, Fryns J-P
Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.
Am J Med Genet A. 2003 Feb 15;117A(1):76-9. doi: 10.1002/ajmg.a.10825.
We report the first case of an individual with a de novo interstitial tandem duplication of the short arm of chromosome 20p12.1p13, discuss the clinical features, and propose the possible underlying mechanism of formation.
我们报告了首例20号染色体短臂p12.1p13区域发生从头间质性串联重复的病例，讨论了其临床特征，并提出了可能的潜在形成机制。
