Ohdo S, Madokoro H, Sonoda T, Ohba K
Department of Paediatrics, Miyazaki Medical College, Japan.
J Med Genet. 1989 Jul;26(7):465-8. doi: 10.1136/jmg.26.7.465.
Two brothers with karyotype 46,XY,-16,+der(16),t(16;17)(q24.3;q25.1)pat are presented. It is commonly thought that duplication of distal 17q results in a clinically recognisable syndrome. Although our cases had several features often seen in patients with autosomal chromosome aberrations, they did not have any of the specific features found in other patients with this duplication.
本文报告了两兄弟,其核型为46,XY,-16,+der(16),t(16;17)(q24.3;q25.1)pat。通常认为17q远端重复会导致一种临床可识别的综合征。尽管我们的病例有一些常出现在常染色体畸变患者中的特征,但他们没有其他具有这种重复的患者所具有的任何特定特征。