Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.
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.
Van Esch
Hilde
H
Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium. hilde.vanesch@med.kuleuven.be
Rosser
Elisabeth M
EM
Janssens
Sandra
S
Van Ingelghem
Ingrid
I
Loeys
Bart
B
Menten
Bjorn
B
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