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Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14
  1. Hilde Van Esch1,
  2. Elisabeth M Rosser2,
  3. Sandra Janssens3,
  4. Ingrid Van Ingelghem4,
  5. Bart Loeys3,
  6. Bjorn Menten3
  1. 1Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium
  2. 2Clinical Genetics, Great Ormond Street Hospital, London, UK
  3. 3Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium
  4. 4Pediatric Department, AZ KLINA, Brasschaat, Belgium
  1. Correspondence to Professor Hilde Van Esch, Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; hilde.vanesch{at}med.kuleuven.be

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.

  • Chromosome 6q
  • microdeletion
  • developmental delay
  • connective tissue
  • collagen
  • COL12A1, clinical genetics
  • cytogenetics
  • connective tissue disease

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval This study was conducted with the approval of the ethics review boards of the respective hospitals.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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