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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Acknowledgements
We thank the parents of patients for their support, as well as Hannelore Madle, Susanne Freier, Nadine Nowak and Corinna Menzel for expert technical assistance. Array CGH was supported by the German Nationales Genomforschungsnetzwerk (Grant 01GR0203) and by the Max Planck Innovation Fund. This article is dedicated to the memory of Dr Ines Krause-Plonka.
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Tzschach, A., Bisgaard, AM., Kirchhoff, M. et al. Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. Eur J Hum Genet 18, 291–295 (2010). https://doi.org/10.1038/ejhg.2009.163
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DOI: https://doi.org/10.1038/ejhg.2009.163
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