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150 related items for PubMed ID: 10457847
1. Anterior chamber eye anomalies, redundant skin and syndactyly--a new syndrome associated with breakpoints at 2q37.2 and 7q36.3. Temple IK, Browne C, Hodgkins P. Clin Dysmorphol; 1999 Jul; 8(3):157-63. PubMed ID: 10457847 [Abstract] [Full Text] [Related]
2. De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome. Chitayat D, Fagerstrom CL, Kalousek DK, Rootman J, Taylor GP, Hall JG. Am J Med Genet; 1989 Jan; 32(1):36-41. PubMed ID: 2495721 [Abstract] [Full Text] [Related]
3. Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37). Wang TH, Johnston K, Hsieh CL, Dennery PA. Am J Med Genet; 1994 Feb 15; 49(4):399-401. PubMed ID: 8160733 [Abstract] [Full Text] [Related]
4. Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital anomalies. Celep F, Acar H, Aynaci O, Aynaci FM, Karagüzel A. Genet Couns; 2001 Feb 15; 12(4):319-26. PubMed ID: 11837600 [Abstract] [Full Text] [Related]
7. Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1). Fryns JP, Kleczkowska A, Smeets E, Thiry P, Geutjens J, Van den Berghe H. Am J Med Genet; 1990 Dec 15; 37(4):546-7. PubMed ID: 2260606 [Abstract] [Full Text] [Related]
10. De novo highly complex chromosome rearrangement (CCR) involving five breakpoints with congenital anomalies analyzed by FISH. Curotti G, Benkhalifa M, Raybaud C, Picard F, Bellec V, Qumsiyeh MB. Genet Couns; 1999 Dec 15; 10(3):259-64. PubMed ID: 10546097 [Abstract] [Full Text] [Related]
11. Filippi syndrome: report of three additional cases. Williams MS, Williams JL, Wargowski DS, Pauli RM, Pletcher BA. Am J Med Genet; 1999 Nov 19; 87(2):128-33. PubMed ID: 10533026 [Abstract] [Full Text] [Related]
18. Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. Tegay DH, Chan KK, Leung L, Wang C, Burkett S, Stone G, Stanyon R, Toriello HV, Hatchwell E. Clin Genet; 2009 Mar 19; 75(3):259-64. PubMed ID: 19170718 [Abstract] [Full Text] [Related]
19. Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism. Galasso C, Lo-Castro A, Lalli C, Nardone AM, Gullotta F, Curatolo P. J Child Neurol; 2008 Jul 19; 23(7):802-6. PubMed ID: 18658079 [Abstract] [Full Text] [Related]
20. Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements. Chen CP, Chern SR, Lee CC, Lin CC, Li YC, Hsieh LJ, Chen WL, Wang W. Prenat Diagn; 2006 Feb 19; 26(2):138-46. PubMed ID: 16470734 [Abstract] [Full Text] [Related] Page: [Next] [New Search]