Abstract
The introduction of array CGH in clinical diagnostics has led to the discovery of many new microdeletion/microduplication syndromes. Most of them are rare and often present with a variable range of clinical anomalies. In this study we report three patients with a de novo overlapping microdeletion of chromosome bands 12q15q21.1. The deletions are ∼2.5 Mb in size, with a 1.34-Mb common deleted region containing six RefSeq genes. All three patients present with learning disability or developmental delay, nasal speech and hypothyroidism. In this paper we will further elaborate on the genotype–phenotype correlation associated with this deletion and compare our patients with previously reported cases.
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Acknowledgements
We are grateful to all patients, their families and the clinicians involved for their cooperation. We thank Lies Vantomme and Shalina Baute for their expert technical assistance and Filip Pattyn for continuous support. Sarah Vergult is supported by a PhD fellowship of the Research Foundation – Flanders (FWO). Bart Loeys is senior clinical investigator of the Research Foundation – Flanders (FWO). This work was supported by a grant SBO60848 from the Institute for the Promotion of Innovation by Science and Technology in Flanders (IWT) and a Methusalem grant of the Flemish Government. This article presents research results of the Belgian program of Interuniversity Poles of attraction initiated by the Belgian State, Prime Minister's Office, Science Policy Programming (IUAP).
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Vergult, S., Krgovic, D., Loeys, B. et al. Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions. Eur J Hum Genet 19, 1032–1037 (2011). https://doi.org/10.1038/ejhg.2011.67
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DOI: https://doi.org/10.1038/ejhg.2011.67
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