title: Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.
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.
authors.affiliation: Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium. hilde.vanesch@med.kuleuven.be
authors.forename: Hilde
authors.initials: H
authors.lastname: Van Esch
authors.forename: Elisabeth M
authors.initials: EM
authors.lastname: Rosser
authors.forename: Sandra
authors.initials: S
authors.lastname: Janssens
authors.forename: Ingrid
authors.initials: I
authors.lastname: Van Ingelghem
authors.forename: Bart
authors.initials: B
authors.lastname: Loeys
authors.forename: Bjorn
authors.initials: B
authors.lastname: Menten
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D003240:Connective Tissue Diseases / Q000235:genetics / Q000473:pathology; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis