Title: Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14
Authors: Van Esch, Hilde ×
Rosser, Elisabeth M
Janssens, Sandra
Van Ingelghem, Ingrid
Loeys, Bart
Menten, Bjorn #
Issue Date: Aug-2010
Publisher: BMJ Publishing Group
Series Title: Journal of Medical Genetics vol:47 issue:10 pages:717-720
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.
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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