메뉴 건너뛰기




Volumn 11, Issue 4, 2007, Pages 459-462

A de novo reciprocal t(2;18) translocation with regular trisomy 21

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 2; CLINICAL FEATURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GTG BANDING; HUMAN; KARYOTYPE; KARYOTYPE 47,XX; METAPHASE; PRESCHOOL CHILD; TRISOMY 21;

EID: 38149068399     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.0045     Document Type: Article
Times cited : (3)

References (18)
  • 1
    • 0034081889 scopus 로고    scopus 로고
    • Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei
    • Blanco J, Egozcue J, Vidal F (2000) Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei. Hum Genet 106:500-505.
    • (2000) Hum Genet , vol.106 , pp. 500-505
    • Blanco, J.1    Egozcue, J.2    Vidal, F.3
  • 2
    • 0016802302 scopus 로고
    • Three chromosome abnormalities (trisomy 21,XXY, and a de novo reciprocal translocation) in a child with 48,XXY,+21,t(6;10)(p22- 24;p12)
    • Buchanan PD (1975) Three chromosome abnormalities (trisomy 21,XXY, and a de novo reciprocal translocation) in a child with 48,XXY,+21,t(6;10)(p22- 24;p12). Humangenetik 28:313-316.
    • (1975) Humangenetik , vol.28 , pp. 313-316
    • Buchanan, P.D.1
  • 3
    • 33845218683 scopus 로고    scopus 로고
    • Down syndrome with tandem 21;21 rearrangement and ebstein's anomaly: A case report
    • Cyrus C, Cyril E, Cherian KM, Kulkarni S, Nallathambi C (2007) Down syndrome with tandem 21;21 rearrangement and ebstein's anomaly: A case report. Int J Cardiol 115:e58-e60
    • (2007) Int J Cardiol , vol.115
    • Cyrus, C.1    Cyril, E.2    Cherian, K.M.3    Kulkarni, S.4    Nallathambi, C.5
  • 5
    • 0034130679 scopus 로고    scopus 로고
    • Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies
    • Estop AM, Cieply K, Munne S, Surti U, Wakim A, Feingold E (2000) Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies. Hum Genet 106:517-524
    • (2000) Hum Genet , vol.106 , pp. 517-524
    • Estop, A.M.1    Cieply, K.2    Munne, S.3    Surti, U.4    Wakim, A.5    Feingold, E.6
  • 6
    • 0027440268 scopus 로고
    • A rare reciprocal translocation (12;21) segregating for nine generations
    • Koskinen S, Onnelainen T, de la Chapelle A, Kere J (1993) A rare reciprocal translocation (12;21) segregating for nine generations. Hum Genet 92:509-512.
    • (1993) Hum Genet , vol.92 , pp. 509-512
    • Koskinen, S.1    Onnelainen, T.2    de la Chapelle, A.3    Kere, J.4
  • 7
    • 23744434911 scopus 로고    scopus 로고
    • Fluorescence in situ hybridization sperm analysis of six translocation carriers provides evidence of an interchromosomal effect
    • Machev N, Gosset P, Warter S, Treger M, Schillinger M, Viville S (2005) Fluorescence in situ hybridization sperm analysis of six translocation carriers provides evidence of an interchromosomal effect. Fertil Steril 84:365-373.
    • (2005) Fertil Steril , vol.84 , pp. 365-373
    • Machev, N.1    Gosset, P.2    Warter, S.3    Treger, M.4    Schillinger, M.5    Viville, S.6
  • 8
    • 0029619833 scopus 로고
    • Chromosomal control of meiotic division
    • McKim KS, Hawley RS (1995) Chromosomal control of meiotic division. Science 270:1595-1601.
    • (1995) Science , vol.270 , pp. 1595-1601
    • McKim, K.S.1    Hawley, R.S.2
  • 10
    • 0029917626 scopus 로고    scopus 로고
    • Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993 National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists
    • Mutton D, Alberman E, Hook EB (1996) Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993 National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists. J Med Genet 33:387-394.
    • (1996) J Med Genet , vol.33 , pp. 387-394
    • Mutton, D.1    Alberman, E.2    Hook, E.B.3
  • 12
    • 0034969830 scopus 로고    scopus 로고
    • Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling techniques
    • Pellestor F, Imbert I, Andreo B, Lefort G (2001) Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling techniques. Hum Reprod 16: 1155-1164.
    • (2001) Hum Reprod , vol.16 , pp. 1155-1164
    • Pellestor, F.1    Imbert, I.2    Andreo, B.3    Lefort, G.4
  • 13
    • 0026541533 scopus 로고
    • No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements
    • Schinzel AA, Adelsberger PA, Binkert F, Basaran S, Antonarakis SE (1992) No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements. Am J Hum Genet 50:288-293
    • (1992) Am J Hum Genet , vol.50 , pp. 288-293
    • Schinzel, A.A.1    Adelsberger, P.A.2    Binkert, F.3    Basaran, S.4    Antonarakis, S.E.5
  • 14
    • 0031947644 scopus 로고    scopus 로고
    • Study of Down syndrome in 238,942 consecutive births
    • Stoll C, Alembik Y, Dott B, Roth MP (1998) Study of Down syndrome in 238,942 consecutive births. Ann Genet 41:44-45.
    • (1998) Ann Genet , vol.41 , pp. 44-45
    • Stoll, C.1    Alembik, Y.2    Dott, B.3    Roth, M.P.4
  • 15
    • 0025251542 scopus 로고
    • Translocation (14;21)(q11;q22) in a woman with history of abortions and a child with Down's syndrome
    • Sudha T, Gopinath PM (1990) Translocation (14;21)(q11;q22) in a woman with history of abortions and a child with Down's syndrome. Ann Genet 33:162-164.
    • (1990) Ann Genet , vol.33 , pp. 162-164
    • Sudha, T.1    Gopinath, P.M.2
  • 16
    • 0022633253 scopus 로고
    • Trisomy 21 Down Syndrome. II: Structural chromosome rearrangements in the parents
    • Uchida IA, Freeman VC (1986) Trisomy 21 Down Syndrome. II: Structural chromosome rearrangements in the parents. Hum Genet 72:118-122.
    • (1986) Hum Genet , vol.72 , pp. 118-122
    • Uchida, I.A.1    Freeman, V.C.2
  • 17
    • 0025941775 scopus 로고
    • De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
    • Warburton D (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995-1013
    • (1991) Am J Hum Genet , vol.49 , pp. 995-1013
    • Warburton, D.1
  • 18
    • 0028899545 scopus 로고
    • Balanced karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents
    • Wenger SL, Steele MW, Boone LY, Lenkey SG, Cummins JH, Chen X-Q (1995) "Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. Am J Med Genet 55:47-52.
    • (1995) Am J Med Genet , vol.55 , pp. 47-52
    • Wenger, S.L.1    Steele, M.W.2    Boone, L.Y.3    Lenkey, S.G.4    Cummins, J.H.5    Chen, X.-Q.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.