Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with 
mental retardation and dysmorphy

Volleth, M.; Stumm, M.; Mohnike, K.; Kalscheuer, V. M.; Jakubiczka, S.; Wieacker, P.

doi:10.1159/000053374

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Journal Article

Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy

MPS-Authors

Volleth, M.
Max Planck Society;

Stumm, M.
Max Planck Society;

Mohnike, K.
Max Planck Society;

Kalscheuer, V. M.
Max Planck Society;

Jakubiczka, S.
Max Planck Society;

Wieacker, P.
Max Planck Society;

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http://www.ncbi.nlm.nih.gov/pubmed/11588402
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Citation

Volleth, M., Stumm, M., Mohnike, K., Kalscheuer, V. M., Jakubiczka, S., & Wieacker, P. (2001). Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy. Hum Hered, 52(3), 177-82. doi:10.1159/000053374.

Cite as: https://hdl.handle.net/21.11116/0000-0002-DFFD-7

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.