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

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  • Andreas Tzschach
  • Anne-Marie Bisgaard
  • Maria Kirchhoff
  • Luitgard M Graul-Neumann
  • Heidemarie Neitzel
  • Stephanie Page
  • Alischo Ahmed
  • Ines Müller
  • Fikret Erdogan
  • Hans-Hilger Ropers
  • Vera M Kalscheuer
  • Reinhard Ullmann
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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.
Original languageEnglish
JournalEuropean Journal of Human Genetics
Volume18
Issue number3
Pages (from-to)291-5
Number of pages5
ISSN1018-4813
DOIs
Publication statusPublished - 1 Mar 2010

ID: 32206310