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  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. (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.

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Item Permalink: https://hdl.handle.net/21.11116/0000-0002-DFFD-7 Version Permalink: https://hdl.handle.net/21.11116/0000-0002-DFFE-6
Genre: Journal Article

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http://www.ncbi.nlm.nih.gov/pubmed/11588402 (Any fulltext)
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 Creators:
Volleth, M.1, Author
Stumm, M.1, Author
Mohnike, K.1, Author
Kalscheuer, V. M.1, Author
Jakubiczka, S.1, Author
Wieacker, P.1, Author
Affiliations:
1Max Planck Society, ou_persistent13              

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Free keywords: Adolescent Chromosome Aberrations Chromosome Banding Chromosome Mapping Female Humans In Situ Hybridization, Fluorescence Intellectual Disability/*genetics Phenotype *X Chromosome
 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.

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 Dates: 2001
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: Other: 11588402
DOI: 10.1159/000053374
ISSN: 0001-5652 (Print) 0001-5652 (Linking)
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Title: Hum Hered
  Alternative Title : Human heredity
Source Genre: Journal
 Creator(s):
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Publ. Info: -
Pages: - Volume / Issue: 52 (3) Sequence Number: - Start / End Page: 177 - 82 Identifier: -