首页 | 本学科首页   官方微博 | 高级检索  
检索        


Molecular cytogenetic studies of duplication 9q32→q34.3 inserted into 9q13
Authors:Jia-Woei Hou  Tso-Ren Wang
Institution:Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan
Abstract:Fluorescence in situ hybridization (FISH) studies using whole chromosome 9 painting probe, classical satellite (9q12-specific) probe and abl cosmid probe (locus: 9q34) were performed on a female infant who was born with multiple congenital anomalies and the karyotype 46,XX, 9q+. The results of FISH confirm the euchromatic nature of the extra material on the long arm of chromosome 9, and provide evidence that it is of chromosome 9 origin. The structural rearrangement has probably resulted from an insertion of a duplicated segment 9q32→q34.3 into band q13, as shown by the abl cosmid probe. The clinical features in this patient are similar to the previously reported cases of partial trisomy 9q3.
Keywords:chromosome 9  duplication 9q32→q34  3  insertion
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号