Li P H, Shu S G, Yang C H, Lo F C, Wen M C, Chi C S
Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, Republic of China.
Am J Med Genet. 1996 Jun 28;63(4):537-41. doi: 10.1002/(SICI)1096-8628(19960628)63:4<537::AID-AJMG5>3.0.CO;2-L.
We present a 6-year-old Chinese boy with Alagille syndrome and an interstitial 20p deletion, with a karyotype of 46,XY,der(20)dir ins(7;20)(q11.23;p11.23p12.2 or p12.2p13)mat. He had a peculiar face and suffered from congenital heart disease, growth retardation, severe cholestasis, hepatosplenomegaly, and impaired renal function. The karyotype of his mother showed a balanced translocation, 46,XX,dir ins(7;20)(q11.23; p11.23p12.2 or p12.2p13), and her phenotype was normal. His dead elder brother was highly suspected as another victim of Alagille syndrome. The findings in the present family suggested that if Alagille syndrome is a single gene defect, the putative gene responsible for the syndrome would not be located at the insertion breakpoints but located within the deletion extent.
我们报告一名6岁中国男孩，患有阿拉吉耶综合征及20号染色体间质缺失，核型为46,XY,der(20)dir ins(7;20)(q11.23;p11.23p12.2或p12.2p13)mat。他面容奇特，患有先天性心脏病、生长发育迟缓、严重胆汁淤积、肝脾肿大及肾功能受损。其母亲的核型显示为平衡易位，46,XX,dir ins(7;20)(q11.23;p11.23p12.2或p12.2p13)，且表型正常。他已故的哥哥高度怀疑也是阿拉吉耶综合征的受害者。本家系的研究结果提示，如果阿拉吉耶综合征是单基因缺陷，那么推测导致该综合征的基因不在插入断点处，而是位于缺失范围内。
