The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

Autor: John A. Crolla, Regina Regan, Wayne Lam, Nicola Foulds, Colm Costigan, Carol A. Delaney, Sean Ennis, Amanda L. Collins, Sally Ann Lynch, James Iremonger, Bernt-Oves Hedberg, Göran Annerén, Freddie H. Sharkey, Caroline M Murray, David R. FitzPatrick, Ann-Charlotte Thuresson

Publikováno v: Lynch, S A, Foulds, N, Thuresson, A-C, Collins, A L, Annerén, G, Hedberg, B-O, Delaney, C A, Iremonger, J, Murray, C M, Crolla, J A, Costigan, C, Lam, W, Fitzpatrick, D R, Regan, R, Ennis, S & Sharkey, F 2011, ' The 12q14 microdeletion syndrome : six new cases confirming the role of HMGA2 in growth ', European Journal of Human Genetics, vol. 19, no. 5, pp. 534-9 . https://doi.org/10.1038/ejhg.2010.215

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 o

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https://doi.org/10.1038/ejhg.2010.215