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  Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up

Jun, K. R., Ullmann, R., Khan, S., Layman, L. C., & Kim, H.-G. (2014). Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up. Molecular Cytogenetics, 2014: 7:52. doi:10.1186/1755-8166-7-52.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-C292-5 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-C293-3
Genre: Journal Article

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© 2014 Jun et al; licensee BioMed Central Ltd
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Jun, K. R., Author
Ullmann, R.1, Author              
Khan, S., Author
Layman, L. C., Author
Kim, H.-G.2, Author              
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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 Abstract: BACKGROUND: Copy number variations at 2p11.2 have been rare and to our knowledge, no abnormal phenotype with an interstitial 2p11.2 duplication has yet been reported. Here we report the first case with syndromic intellectual disability associated with microduplication at 2p11.2. RESULTS: We revisited a white female subject with a chromosome translocation, t(8;10)(p23;q23)mat and a 10q telomeric deletion suspected by G-banding 30 years ago. This female with severe intellectual disability, no speech, facial dysmorphism, intractable epilepsy, recurrent infection, and skeletal abnormalities has been observed from the birth until her death. The karyotype analysis reconfirmed the previously reported chromosome translocation with a revision as 46,XX,t(8;10)(p23.3;q23.2)mat by adding more detail in chromosomal sub-bands. The array comparative genomic hybridization, however, did not detect the 10q terminal deletion originally reported, but instead, revealed a 390 kb duplication at 2p11.2; 46,XX,t(8;10)(p23.3;q23.2)mat.arr[hg 19] 2p11.2(85469151x2,85474356-85864257x3,85868355x2). This duplication region was confirmed by real-time quantitative PCR and real-time reverse transcriptase quantitative PCR. CONCLUSIONS: We suggest three positional candidate genes for intellectual disability and recurrent infection based upon gene function and data from real-time reverse transcriptase quantitative PCR-VAMP8 and RNF181 for intellectual disability and CAPG for recurrent infection.

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Language(s): eng - English
 Dates: 2014-08-19
 Publication Status: Published online
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 Rev. Method: Peer
 Identifiers: DOI: 10.1186/1755-8166-7-52
ISSN: 1755-8166 (Electronic)
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Title: Molecular Cytogenetics
Source Genre: Journal
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Publ. Info: BioMed Central
Pages: - Volume / Issue: 2014 Sequence Number: 7:52 Start / End Page: - Identifier: -