Delineation of Subtelomeric Deletion of the Long Arm of Chromosome 6

Ji Yun Lee, Youl Hee Cho, Gene Hallford

Research output: Contribution to journalReview articlepeer-review

17 Citations (Scopus)


Pure subtelomeric deletion of the long arm of chromosome 6 is rare. The frequency of this deletion accounts for approximately 0.05% of subjects with intellectual disability and developmental delay with or without dysmorphic features. Common phenotypes associated with this deletion include intellectual disability, developmental delay, dysmorphic features, seizure, hypotonia, microcephaly and hypoplasia of the corpus callosum. The smallest overlapped region is approximately 0.4 Mb, and contains three known genes. Of these genes, TBP has been considered as a plausible candidate gene for the phenotype in patients with a subtelomeric 6q deletion. Analysis of the breakpoints in 14 cases revealed a potential common breakpoint interval 8.0-9.0 Mb from the chromosome 6q terminus where the FRA6E fragile site exists and the PARK2 gene is located. This suggests that breakage at the FRA6E fragile site may be the mechanism behind chromosome 6q subtelomeric deletion in some of the cases.

Original languageEnglish
Pages (from-to)755-764
Number of pages10
JournalAnnals of Human Genetics
Issue number6
Publication statusPublished - 2011 Nov
Externally publishedYes


  • Array CGH
  • Chromosome 6q
  • Chromosome abnormality
  • FISH
  • Subtelomeric deletion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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