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  4q35 deletion and 10p15 duplication associated with immunodeficiency

Cingoz, S., Bisgaard, A., Bache, I., Bryndorf, T., Kirchoff, M., Petersen, W., et al. (2006). 4q35 deletion and 10p15 duplication associated with immunodeficiency. American Journal of Medical Genetics Part A, 140(20), 2231-2235. doi:10.1002/ajmg.a.31431.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-83AC-4 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-83AD-2
Genre: Journal Article
Alternative Title : Am. J. Med. Genet.

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fulltext_ID=112782428&PLACEBO=IE.pdf (Any fulltext), 146KB
 
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 Creators:
Cingoz, S., Author
Bisgaard, A.M., Author
Bache, I., Author
Bryndorf, T., Author
Kirchoff, M., Author
Petersen, W., Author
Ropers, Hans-Hilger1, Author           
Maas, N., Author
Van Buggenhout, G., Author
Tommerup, N., Author
Tümer, Z., Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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Free keywords: arthritis • atopic dermatitis • chromosomal translocation • immune defect • deletion 4q35 • duplication 10q15
 Abstract: We report a familial cryptic reciprocal translocation between 4q35 and 10p15 leading to deletion of the terminal long arm of chromosome 4 and duplication of the terminal short arm of chromosome 10 in two family members who both have immunological disturbances and a similar facial appearance. The precise location and extent of the deletion and duplication was determined by fluorescence in situ hybridization (FISH). Furthermore, we investigated the deletion breakpoint of a previously reported patient with 4q34.3-qter deletion [Van Buggenhout et al. (2004

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Language(s): eng - English
 Dates: 2006-09-08
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 307413
DOI: 10.1002/ajmg.a.31431
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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 (20) Sequence Number: - Start / End Page: 2231 - 2235 Identifier: ISSN: 1096-8628