A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome
Author:
Publisher
S. Karger AG
Subject
Genetics(clinical),Genetics
Reference28 articles.
1. Abreu-González M, García-Delgado C, Cervantes A, Aparicio-Onofre A, Guevara-Yáñez R, et al: Clinical, cytogenetic, and biochemical analyses of a family with a t(3;13)(q26.2;p11.2): further delineation of 3q duplication syndrome. Case Rep Genet 2013:895259 (2013).
2. Aqua MS, Rizzu P, Lindsay EA, Shaffer LG, Zackai EH, et al: Duplication 3q syndrome: molecular delineation of the critical region. Am J Med Genet 55:33-37 (1995).
3. Bronstein JM, Chen K, Tiwari-Woodruff S, Kornblum HI: Developmental expression of OSP/claudin-11. J Neurosci Res 60:284-290 (2000).
4. de Azevedo Moreira LM, Neri FB, de Quadros US, de Carvalho AF, Santana GC, et al: Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q. Ophtalmic Genet 26:37-43 (2005).
5. Dworschak GC, Crétolle C, Hilger A, Engels H, Korsch E, et al: Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2. Clin Genet 91:661-671 (2017).
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