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.; Ahmed, A.; Muller, I.; Erdogan, F.; Ropers, H. H.; Kalscheuer, V. M.; Ullmann, R.

doi:10.1038/ejhg.2009.163

Item

ITEM ACTIONSEXPORT

Add to Basket

Local TagsRelease HistoryDetailsSummary

Released

Journal Article

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

MPS-Authors

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;

External Resource

http://www.ncbi.nlm.nih.gov/pubmed/19844253
(Any fulltext)

Fulltext (restricted access)

There are currently no full texts shared for your IP range.

Fulltext (public)

There are no public fulltexts stored in PuRe

Supplementary Material (public)

There is no public supplementary material available

Citation

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.

Cite as: https://hdl.handle.net/21.11116/0000-0002-E006-A

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.