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- Title
Preferential Inactivation of a dupX(q23 → q27-28) Chromosome in a Girl with Mental Retardation and Dysmorphy.
- Authors
Volleth, M.; Stumm, M.; Mohnike, K.; Kalscheuer, V.M.; Jakubiczka, S.; Wieacker, P.
- 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, Basel
- Publication
Human Heredity, 2001, Vol 52, Issue 3, p177
- ISSN
0001-5652
- Publication type
Article
- DOI
10.1159/000053374