Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

J Med Genet. 2010 Oct;47(10):717-20. doi: 10.1136/jmg.2010.077586. Epub 2010 Aug 3.

Abstract

Interstitial deletions of the long arm of chromosome 6 are rare, and most reported cases represent large, cytogenetically detectable deletions. The implementation of array comparative genome hybridisation in the diagnostic work-up of patients presenting with congenital disorders, including developmental delay, has enabled identification of many patients with smaller chromosomal imbalances. In this report, the cases are presented of four patients with a de novo interstitial deletion of chromosome 6q13-14, resulting in a common microdeletion of 3.7 Mb. All presented with developmental delay, mild dysmorphism and signs of lax connective tissue. Interestingly, the common deleted region harbours 16 genes, of which COL12A1 is a good candidate for the connective tissue pathology.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6 / genetics*
  • Comparative Genomic Hybridization
  • Connective Tissue Diseases* / genetics
  • Connective Tissue Diseases* / pathology
  • Developmental Disabilities* / genetics
  • Developmental Disabilities* / pathology
  • Female
  • Humans
  • Infant
  • Male
  • Oligonucleotide Array Sequence Analysis