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3. Tandem duplication 11q23-ter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities. Pfeiffer RA, Schütz C. Ann Genet; 1993; 36(3):163-6. PubMed ID: 8117062 [Abstract] [Full Text] [Related]
6. U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8. Mitchell JJ, Vekemans M, Luscombe S, Hayden M, Weber B, Richter A, Sparkes R, Kojis T, Watters G, Der Kaloustian VM. Am J Med Genet; 1994 Feb 15; 49(4):384-7. PubMed ID: 8160729 [Abstract] [Full Text] [Related]
7. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism. Peeters H, Vermeesch J, Fryns JP. Genet Couns; 2008 Feb 15; 19(4):365-71. PubMed ID: 19239079 [Abstract] [Full Text] [Related]
8. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y. Delicado A, Lapunzina P, Palomares M, Molina MA, Galán E, López Pajares I. Eur J Med Genet; 2005 Feb 15; 48(2):159-66. PubMed ID: 16053907 [Abstract] [Full Text] [Related]
10. Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient. Lukusa T, Van Buggenhout G, Devriendt K, Fryns JP. Genet Couns; 2002 Feb 15; 13(1):1-10. PubMed ID: 12017231 [Abstract] [Full Text] [Related]
11. Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7. Lopez-Rangel E, Hrynchak M, Friedman JM. Am J Med Genet; 1993 Sep 01; 47(3):326-9. PubMed ID: 8135275 [Abstract] [Full Text] [Related]
13. Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization. Zenger-Hain JL, Van Dyke DL, Wiktor A, Walker H, Feldman GL. Am J Med Genet; 1993 Dec 01; 47(8):1198-201. PubMed ID: 8291556 [Abstract] [Full Text] [Related]
14. Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation. Engelen JJ, de Die-Smulders CE, Dirckx R, Verhoeven WM, Tuinier S, Curfs LM, Hamers AJ. Am J Med Genet; 2002 Apr 22; 109(2):149-53. PubMed ID: 11977164 [Abstract] [Full Text] [Related]
16. Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q. Chen CP, Lin SP, Lin CC, Chen YJ, Chern SR, Li YC, Hsieh LJ, Lee CC, Pan CW, Wang W. Am J Med Genet A; 2006 Jul 15; 140(14):1594-600. PubMed ID: 16770806 [Abstract] [Full Text] [Related]
17. Brief cytogenetic case report: a 4.5-year-old girl with deletion 4q syndrome--de novo, 46,XX, del(4) (pter leads to q31:). Young RS, Palmer CG, Bender HA, Weaver DD, Hodes ME. Am J Med Genet; 1982 May 15; 12(1):103-7. PubMed ID: 7091193 [No Abstract] [Full Text] [Related]
19. Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum. Zahnleiter D, Trautmann U, Ekici AB, Goehring I, Reis A, Dörr HG, Rauch A, Thiel CT. Eur J Med Genet; 2011 May 15; 54(5):e521-4. PubMed ID: 21777705 [Abstract] [Full Text] [Related]
20. Moderate mental retardation and mild dysmorphic syndrome in proximal 7q interstitial deletion. Fryns JP, Kleczkowska A, Van den Berghe H. Ann Genet; 1987 May 15; 30(2):111-2. PubMed ID: 3499842 [Abstract] [Full Text] [Related] Page: [Next] [New Search]