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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics. (Forskargrupp Anneren)
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2011 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 19, no 5, 534-539 p.Article in journal (Refereed) Published
Abstract [en]

We report six patients with array deletions encompassing 12q14. Out of a total of 2538 array investigations carried out on children with developmental delay and dysmorphism in three diagnostic testing centres, six positive cases yielded a frequency of 1 in 423 for this deletion syndrome. The deleted region in each of the six cases overlaps significantly with previously reported cases with microdeletions of this region. The chromosomal range of the deletions extends from 12q13.3q15. In the current study, we report overlapping deletions of variable extent and size but primarily comprising chromosomal bands 12q13.3q14.1. Four of the six deletions were confirmed as de novo events. Two cases had deletions that included HMGA2, and both children had significant short stature. Neither case had osteopoikilosis despite both being deleted for LEMD3. Four cases had deletions that ended proximal to HMGA2 and all of these had much better growth. Five cases had congenital heart defects, including two with atrial septal defects, one each with pulmonary stenosis, sub-aortic stenosis and a patent ductus. Four cases had moderate delay, two had severe developmental delay and a further two had a diagnosis of autism. All six cases had significant speech delay with subtle facial dysmorphism.

Place, publisher, year, edition, pages
2011. Vol. 19, no 5, 534-539 p.
Keyword [en]
12q14 microdeletion, array-CGH, HMGA2, short stature
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-153298DOI: 10.1038/ejhg.2010.215ISI: 000289789500011PubMedID: 21267005OAI: oai:DiVA.org:uu-153298DiVA: diva2:416017
Available from: 2011-05-10 Created: 2011-05-10 Last updated: 2013-09-17Bibliographically approved

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Thuresson, Ann-CharlotteAnnerén, Göran
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