首页 | 本学科首页   官方微博 | 高级检索  
     


IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver-Russell syndrome
Authors:Eggermann T  Kloos P  Mergenthaler S  Eggermann K  Dobos M  Ranke M  Wollmann H
Affiliation:Department of Pediatrics, St Louis University School of Medicine, Pediatric Research Institute, MO, USA. batanijr@slu.edu
Abstract:We report a familial deletion of (8q) detected in amniocytes of a fetus with a normal ultrasound and in the phenotypically normal mother, who has now had three pregnancy losses. Chromosome analysis of amniocytes and maternal peripheral blood cells showed an interstitial deletion of (8)(q24.13q24.22), which is distal to the region associated with Langer-Giedion syndrome (LGS) or trichorhinophalangeal (TRP) syndrome. This deletion was confirmed by fluorescence in situ hybridization with a c-myc cosmid clone and chromosome 8 painting library.
Keywords:chromosome 8    chromosome deletion    familial chromosome deletion
本文献已被 PubMed 等数据库收录!
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