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  Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion

Tzschach, A., Krause-Plonka, I., Menzel, C., Knoblauch, A., Toennies, H., Hoeltzenbein, M., et al. (2006). Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion. American Journal of Medical Genetics Part A, 140(10), 1108-1110. doi:10.1002/ajmg.a.31226.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8443-8 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8444-6
Genre: Journal Article
Alternative Title : Am. J. Med. Genet.

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fulltext_ID=112593338&PLACEBO=IE.pdf (Any fulltext), 105KB
 
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 Creators:
Tzschach, Andreas1, Author              
Krause-Plonka, Ines, Author
Menzel, Corinna2, Author
Knoblauch, Andreas, Author
Toennies, Holger, Author
Hoeltzenbein, Maria2, Author
Radke, Michael, Author
Ropers, Hans-Hilger1, Author              
Kalscheuer, Vera M.3, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              
3Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: del(10)(q22.2q22.3) • hypotonia • developmental delay • growth retardation
 Abstract: Interstitial deletions of 10q are rare, and only one patient with a deletion confined to chromosome band 10q22 has been reported so far. We report on a 2 6/12-year-old girl with a constitutional interstitial deletion of one homologue of 10q [karyotype: 46,XX,del(10)(q22.2q22.3)de novo]. Our patient had muscular hypotonia, developmental delay, growth retardation, mild facial dysmorphism, and hypoplastic labia minora. The precise location and extent (3.6 Mb) of the deletion was determined by fluorescence in situ hybridization (FISH) using 16 YAC and BAC clones. The clinical features in our patient are remarkably similar to the previously reported patient with a 10q22.2 deletion.

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Language(s): eng - English
 Dates: 2006-04-17
 Publication Status: Published in print
 Pages: -
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 Rev. Type: -
 Identifiers: eDoc: 309212
DOI: 10.1002/ajmg.a.31226
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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am. J. Med. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 140 (10) Sequence Number: - Start / End Page: 1108 - 1110 Identifier: ISSN: 1096-8628