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

Hilde van Esch (1) , Elisabeth M Rosser (2) , Sandra Janssens (3) , Ingrid van Ingelghem (4) , Bart Loeys (5) , Björn Menten (6)

1 Centre for Human Genetics
2 GOSH - Great Ormond Street Hospital for Children [London]
3 Center for Medical Genetics Ghent
4 Pediatric Department AZ KLINA
5 Center for Medical Genetics [Ghent]
6 Ghent University Hospital

Interstitial deletions of the long arm of chromosome 6 are rare, and most of the reported cases represent large, cytogenetically detectable deletions. The implementation of array-CGH in the diagnostic work-up of patients presenting with congenital disorders including developmental delay has enabled the identification of many patients with smaller chromosomal imbalances. Here we present 4 patients with a de novo interstitial deletion of chromosome 6q13-14, resulting in a common microdeletion of 3.7 Mb. All patients present with developmental delay, mild dysmorphism and signs of lax connective tissue. Interestingly, the common deleted region harbours 16 genes of which the COL12A1 represents a good candidate for the connective tissue pathology.

Mots clés: Clinical genetics; Cytogenetics; Connective tissue disease

Hilde van Esch, Elisabeth M Rosser, Sandra Janssens, Ingrid van Ingelghem, Bart Loeys, et al.. Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14. Journal of Medical Genetics, 2010, 47 (10), pp.717. ⟨10.1136/jmg.2010.077586⟩. ⟨hal-00557396⟩