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
- developmental delay
- connective tissue
- COL12A1, clinical genetics
- connective tissue disease
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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.