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Title
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Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14
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Author
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Abstract
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| 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. |
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Language
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English
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Source (journal)
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Journal of medical genetics. - London, 1964, currens
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Publication
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London
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British Medical Association
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2010
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ISSN
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0022-2593
[Print]
1468-6244
[Online]
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DOI
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10.1136/JMG.2010.077586
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Volume/pages
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47
:10
(2010)
, p. 717-720
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ISI
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000283533500012
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Full text (Publisher's DOI)
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