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  Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

Tzschach, A., Bisgaard, A. M., Kirchhoff, M., Graul-Neumann, L. M., Neitzel, H., Page, S., et al. (2010). Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. Eur J Hum Genet, 18(3), 291-5. doi:10.1038/ejhg.2009.163.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0002-E006-A Version Permalink: http://hdl.handle.net/21.11116/0000-0002-E007-9
Genre: Journal Article

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 Creators:
Tzschach, A.1, Author
Bisgaard, A. M.1, Author
Kirchhoff, M.1, Author
Graul-Neumann, L. M.1, Author
Neitzel, H.1, Author
Page, S.1, Author
Ahmed, A.1, Author
Muller, I.1, Author
Erdogan, F.1, Author
Ropers, H. H.1, Author
Kalscheuer, V. M.1, Author
Ullmann, R.1, Author
Affiliations:
1Max Planck Society, ou_persistent13              

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Free keywords: Child, Preschool *Chromosome Aberrations *Chromosome Deletion Chromosomes, Human, Pair 10/*genetics Chromosomes, Human, Pair 13/*genetics Comparative Genomic Hybridization Facies Female Genome, Human/genetics Humans Infant Infant, Newborn Internet Male Pregnancy *Translocation, Genetic
 Abstract: Interstitial deletions of chromosome band 10q22 are rare. We report on the characterization of three overlapping de novo 10q22 deletions by high-resolution array comparative genomic hybridization in three unrelated patients. Patient 1 had a 7.9 Mb deletion in 10q21.3-q22.2 and suffered from severe feeding problems, facial dysmorphisms and profound mental retardation. Patients 2 and 3 had nearly identical deletions of 3.2 and 3.6 Mb, the proximal breakpoints of which were located at an identical low-copy repeat. Both patients were mentally retarded; patient 3 also suffered from growth retardation and hypotonia. We also report on the results of breakpoint analysis by array painting in a mentally retarded patient with a balanced chromosome translocation 46,XY,t(10;13)(q22;p13)dn. The breakpoint in 10q22 was found to disrupt C10orf11, a brain-expressed gene in the common deleted interval of patients 1-3. This finding suggests that haploinsufficiency of C10orf11 contributes to the cognitive defects in 10q22 deletion patients.

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 Dates: 2010
 Publication Status: Published in print
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 Rev. Type: -
 Identifiers: Other: 19844253
DOI: 10.1038/ejhg.2009.163
ISSN: 1476-5438 (Electronic) 1018-4813 (Linking)
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Title: Eur J Hum Genet
  Alternative Title : European journal of human genetics : EJHG
Source Genre: Journal
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Pages: - Volume / Issue: 18 (3) Sequence Number: - Start / End Page: 291 - 5 Identifier: -