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Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: description of the first patient.
Rodríguez L, Martínez-Fernández ML, Aceña MI, López Mendoza S, Martín Fumero L, Rodríguez de Alba M, Gallego-Merlo J, Martínez-Frías ML. Rodríguez L, et al. Am J Med Genet A. 2009 May;149A(5):1058-61. doi: 10.1002/ajmg.a.32759. Am J Med Genet A. 2009. PMID: 19353587 No abstract available.
Subtelomeric deletion of 12p: Description of a third case and review.
Macdonald AH, Rodríguez L, Aceña I, Martínez-Fernández ML, Sánchez-Izquierdo D, Zuazo E, Martínez-Frías ML. Macdonald AH, et al. Am J Med Genet A. 2010 Jun;152A(6):1561-6. doi: 10.1002/ajmg.a.33401. Am J Med Genet A. 2010. PMID: 20503336 Review.
Be careful with familial unbalanced chromosome abnormalities!
Rodríguez L, Niebuhr E, García A, Martínez-Fernández ML, Peña Segura JL. Rodríguez L, et al. Am J Med Genet A. 2008 Aug 1;146A(15):2005-7. doi: 10.1002/ajmg.a.32383. Am J Med Genet A. 2008. PMID: 18627044 No abstract available.
35 results