| Literature DB >> 11588402 |
M Volleth1, M Stumm, K Mohnike, V M Kalscheuer, S Jakubiczka, P Wieacker.
Abstract
We report on an 18-year-old female with de novo tandem duplication Xq23-->Xq27-28. The breakpoints of the duplication segment have been mapped by FISH using a panel of locus specific YACs. Despite selective inactivation of the aberrant X chromosome, proven by a combination of molecular and cytogenetic studies, the patient exhibits mental retardation, dysmorphic features and short stature. Possible mechanisms explaining this unexpected finding are discussed. Copyright 2001 S. Karger AG, BaselEntities:
Mesh：
Year: 2001 PMID： 11588402 DOI： 10.1159/000053374
Source DB: PubMed Journal: Hum Hered ISSN： 0001-5652 Impact factor: 0.444