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

MPG-Autoren

Tzschach,  A.
Max Planck Society;

Bisgaard,  A. M.
Max Planck Society;

Kirchhoff,  M.
Max Planck Society;

Graul-Neumann,  L. M.
Max Planck Society;

Neitzel,  H.
Max Planck Society;

Page,  S.
Max Planck Society;

Ahmed,  A.
Max Planck Society;

Muller,  I.
Max Planck Society;

Erdogan,  F.
Max Planck Society;

Ropers,  H. H.
Max Planck Society;

Kalscheuer,  V. M.
Max Planck Society;

Ullmann,  R.
Max Planck Society;

Externe Ressourcen

http://www.ncbi.nlm.nih.gov/pubmed/19844253
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Zitation

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.


Zitierlink: https://hdl.handle.net/21.11116/0000-0002-E006-A
Zusammenfassung
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.