Publication
Title
Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14
Author
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.
Language
English
Source (journal)
Journal of medical genetics. - London, 1964, currens
Publication
London : British Medical Association , 2010
ISSN
0022-2593 [Print]
1468-6244 [Online]
Volume/pages
47 :10 (2010) , p. 717-720
ISI
000283533500012
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 05.11.2018
Last edited 04.09.2021