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2. Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies. Doco-Fenzy M; Mauran P; Lebrun JM; Bock S; Bednarek N; Struski S; Albuisson J; Ardalan A; Collot N; Schneider A; Dastot-Le Moal F; Gaillard D; Goossens M Am J Med Genet A; 2006 Feb; 140(3):212-21. PubMed ID: 16411218 [TBL] [Abstract][Full Text] [Related]
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11. Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome. Hoffman JD; Zhang Y; Greshock J; Ciprero KL; Emanuel BS; Zackai EH; Weber BL; Ming JE J Med Genet; 2005 Jan; 42(1):49-53. PubMed ID: 15635075 [TBL] [Abstract][Full Text] [Related]
12. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. Hannes FD; Sharp AJ; Mefford HC; de Ravel T; Ruivenkamp CA; Breuning MH; Fryns JP; Devriendt K; Van Buggenhout G; Vogels A; Stewart H; Hennekam RC; Cooper GM; Regan R; Knight SJ; Eichler EE; Vermeesch JR J Med Genet; 2009 Apr; 46(4):223-32. PubMed ID: 18550696 [TBL] [Abstract][Full Text] [Related]
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17. Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review. Cheng SF; Rauen KA; Pinkel D; Albertson DG; Cotter PD Am J Med Genet A; 2005 Jun; 135(3):308-13. PubMed ID: 15887264 [TBL] [Abstract][Full Text] [Related]
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19. Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases. Le Caignec C; De Mas P; Vincent MC; Bocéno M; Bourrouillou G; Rival JM; David A Am J Med Genet A; 2005 Jan; 132A(2):175-80. PubMed ID: 15578619 [TBL] [Abstract][Full Text] [Related]
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