Delineation of Subtelomeric Deletion of the Long Arm of Chromosome 6

Ji-Yun Lee, Youl Hee Cho, Gene Hallford

Research output: Contribution to journalReview article

9 Citations (Scopus)

Abstract

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
Volume75
Issue number6
DOIs
Publication statusPublished - 2011 Nov 1

Fingerprint

Chromosomes, Human, Pair 6
Intellectual Disability
Genes
Chromosomes
Phenotype
Microcephaly
Muscle Hypotonia
Corpus Callosum
Seizures
Monosomy 6q Chromosome 6

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Delineation of Subtelomeric Deletion of the Long Arm of Chromosome 6. / Lee, Ji-Yun; Cho, Youl Hee; Hallford, Gene.

In: Annals of Human Genetics, Vol. 75, No. 6, 01.11.2011, p. 755-764.

Research output: Contribution to journalReview article

Lee, Ji-Yun ; Cho, Youl Hee ; Hallford, Gene. / Delineation of Subtelomeric Deletion of the Long Arm of Chromosome 6. In: Annals of Human Genetics. 2011 ; Vol. 75, No. 6. pp. 755-764.
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