These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
22. Prenatal diagnosis of a fetus affected with Down syndrome and deletion 1p36 syndrome by fluorescence in situ hybridization and spectral karyotyping. Hsieh LJ; Hsieh TC; Yeh GP; Lin MI; Chen M; Wang BB Fetal Diagn Ther; 2004; 19(4):356-60. PubMed ID: 15192296 [TBL] [Abstract][Full Text] [Related]
24. De novo 21/21 translocation Down syndrome. Studies of parental origin of the translocation and acrocentric associations in parents. Nikolis J; Kekić V Hum Genet; 1986 Jun; 73(2):127-9. PubMed ID: 2941356 [TBL] [Abstract][Full Text] [Related]
26. Acute myelogenous leukaemia with t(8;21) translocation of normal cell origin in mosaic Down's syndrome with isochromosome 21q. Sato A; Imaizumi M; Koizumi Y; Obara Y; Nakai H; Noro T; Saito T; Saisho T; Yoshinari M; Cui Y; Suzuki H; Funato T; Iinuma K Br J Haematol; 1997 Mar; 96(3):614-6. PubMed ID: 9054671 [TBL] [Abstract][Full Text] [Related]
27. Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations. Riegel M; Wisser J; Baumer A; Schinzel A Prenat Diagn; 2006 Mar; 26(3):221-5. PubMed ID: 16475225 [TBL] [Abstract][Full Text] [Related]
28. Unbalanced and balanced heterologous acrocentric rearrangements involving chromosome 21 at amniocentesis. Chen CP; Chern SR; Wu PC; Tsai FJ; Lee CC; Town DD; Chen WL; Chen LF; Lee MS; Pan CW; Wang W Taiwan J Obstet Gynecol; 2010 Mar; 49(1):62-8. PubMed ID: 20466295 [TBL] [Abstract][Full Text] [Related]
29. Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes. Berend SA; Horwitz J; McCaskill C; Shaffer LG Am J Hum Genet; 2000 Jun; 66(6):1787-93. PubMed ID: 10775524 [TBL] [Abstract][Full Text] [Related]
30. Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome. Shaw SW; Chen CP; Cheng PJ; Wang TH; Hou JW; Lin CT; Chang SD; Hwa HL; Lin JL; Chao AS; Soong YK; Hsieh FJ J Hum Genet; 2008; 53(2):136-143. PubMed ID: 18074101 [TBL] [Abstract][Full Text] [Related]
31. Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation. Scott JA; Wenger SL; Steele MW; Chakravarti A Am J Med Genet; 1995 Mar; 56(1):67-71. PubMed ID: 7747789 [TBL] [Abstract][Full Text] [Related]
32. DNA studies of mono- and pseudodicentric isochromosomes 18q. Bugge M; Brandt CA; Petersen MB Am J Med Genet A; 2004 Jun; 127A(3):230-3. PubMed ID: 15150771 [TBL] [Abstract][Full Text] [Related]
33. Prenatal diagnosis of de novo unbalanced translocation 8p;21q using subtelomeric probes. Ozkinay F; Kanit H; Onay H; Cogulu O; Gunduz C; Ercal D; Ozkinay C Genet Couns; 2006; 17(3):315-20. PubMed ID: 17100200 [TBL] [Abstract][Full Text] [Related]
34. 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; 26(2):138-46. PubMed ID: 16470734 [TBL] [Abstract][Full Text] [Related]
35. Pure duplication 21q21.2-->qter due to a rea(21) in a Down syndrome girl. Remarks on nomenclature. Dominguez MG; Arteaga-Alcaraz G; Rivera H Genet Couns; 2012; 23(2):313-8. PubMed ID: 22876592 [TBL] [Abstract][Full Text] [Related]
36. Structural chromosome abnormalities in Down syndrome: a study of two families. Jacobs PA; Mayer M; Rudak E Cytogenet Cell Genet; 1978; 20(1-6):185-93. PubMed ID: 148351 [TBL] [Abstract][Full Text] [Related]
37. Parental origin and mechanisms of formation of three cases of 12p tetrasomy. Turleau C; Simon-Bouy B; Austruy E; Grisard MC; Lemaire F; Molina-Gomes D; Siffroi JP; Boué J Clin Genet; 1996 Jul; 50(1):41-6. PubMed ID: 8891385 [TBL] [Abstract][Full Text] [Related]
38. Prenatal detection of isochromosome 21 by QF-PCR. A comparison between FISH and traditional karyotyping. Gole L; Lian NB; Lian NP; Rauff M; Biswas A; Choolani M Fetal Diagn Ther; 2008; 24(1):47-50. PubMed ID: 18504381 [TBL] [Abstract][Full Text] [Related]
39. Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations. Kim SR; Shaffer LG Genet Test; 2002; 6(3):163-8. PubMed ID: 12490055 [TBL] [Abstract][Full Text] [Related]
40. Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy. Berend SA; Feldman GL; McCaskill C; Czarnecki P; Van Dyke DL; Shaffer LG Am J Med Genet; 1999 Jan; 82(3):275-81. PubMed ID: 10215554 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]