메뉴 건너뛰기




Volumn 68, Issue 5, 2005, Pages 430-435

Recurrent trisomy 21: Four cases in three generations

Author keywords

Down syndrome; Nondisjunction; Trisomy 21

Indexed keywords

AGE DISTRIBUTION; ALLELE; ARTICLE; CASE REPORT; CENTROMERE; CHROMOSOME 13; CHROMOSOME 21; CHROMOSOME 21Q; CHROMOSOME ANALYSIS; CHROMOSOME PAIRING; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 21; DOWN SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; HYPOTHESIS; KARYOTYPE; MATERNAL AGE; MEIOSIS; MICROSATELLITE MARKER; MOSAICISM; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RECURRENCE RISK; RECURRENT DISEASE; SUPERNUMERARY CHROMOSOME; TRISOMY 21;

EID: 27544498145     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00512.x     Document Type: Article
Times cited : (8)

References (15)
  • 1
    • 0017187482 scopus 로고
    • Risk of Down syndrome in relation to maternal age
    • Hook EB. Risk of Down syndrome in relation to maternal age. Lancet 1976: 2 (7983): 465.
    • (1976) Lancet , vol.2 , Issue.7983 , pp. 465
    • Hook, E.B.1
  • 3
    • 0034605363 scopus 로고    scopus 로고
    • Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line
    • Bruyere H, Rupps R, Kuchinka BD, Friedman JM, Robinson WP. Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line. Am J Med Genet 2000: 94 (1): 35-41.
    • (2000) Am. J. Med. Genet. , vol.94 , Issue.1 , pp. 35-41
    • Bruyere, H.1    Rupps, R.2    Kuchinka, B.D.3    Friedman, J.M.4    Robinson, W.P.5
  • 4
    • 0026713576 scopus 로고
    • DNA polymorphism analysis in families with recurrence of free trisomy 21
    • Pangalos CG, Talbot CC Jr, Lewis JG et al. DNA polymorphism analysis in families with recurrence of free trisomy 21. Am J Hum Genet 1992: 51 (5): 1015-1027.
    • (1992) Am. J. Hum. Genet. , vol.51 , Issue.5 , pp. 1015-1027
    • Pangalos, C.G.1    Talbot Jr., C.C.2    Lewis, J.G.3
  • 5
    • 0037150670 scopus 로고    scopus 로고
    • Sex matters in meiosis
    • Hunt PA, Hassold TJ. Sex matters in meiosis. Science 2002: 296 (5576): 2181-2183.
    • (2002) Science , vol.296 , Issue.5576 , pp. 2181-2183
    • Hunt, P.A.1    Hassold, T.J.2
  • 6
    • 0033804332 scopus 로고    scopus 로고
    • Patterns of meiotic recombination on the long arm of human chromosome 21
    • Lynn A, Kashuk C, Petersen MB et al. Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Res 2000: 10 (9): 1319-1332.
    • (2000) Genome Res. , vol.10 , Issue.9 , pp. 1319-1332
    • Lynn, A.1    Kashuk, C.2    Petersen, M.B.3
  • 7
    • 0033659131 scopus 로고    scopus 로고
    • Chromosomal nondisjunction in human oocytes: Is there a mitochondrial connection?
    • Schon EA, Kim SH, Ferreira JC et al. Chromosomal nondisjunction in human oocytes: is there a mitochondrial connection? Hum Reprod 2000: 15 (Suppl. 2): 160-172.
    • (2000) Hum. Reprod. , vol.15 , Issue.SUPPL. 2 , pp. 160-172
    • Schon, E.A.1    Kim, S.H.2    Ferreira, J.C.3
  • 9
    • 0037361329 scopus 로고    scopus 로고
    • A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities
    • Cockwell AE, Jacobs PA, Beal SJ, Crolla JA. A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities. Hum Genet 2003: 112 (3): 298-302.
    • (2003) Hum. Genet. , vol.112 , Issue.3 , pp. 298-302
    • Cockwell, A.E.1    Jacobs, P.A.2    Beal, S.J.3    Crolla, J.A.4
  • 11
    • 0041377778 scopus 로고    scopus 로고
    • Recombination across the centromere of disjoined and non-disjoined chromosome 21
    • Laurent AM, Li M, Sherman S, Roizes G, Buard J. Recombination across the centromere of disjoined and non-disjoined chromosome 21. Hum Mol Genet 2003: 12 (17): 2229-2239.
    • (2003) Hum. Mol. Genet. , vol.12 , Issue.17 , pp. 2229-2239
    • Laurent, A.M.1    Li, M.2    Sherman, S.3    Roizes, G.4    Buard, J.5
  • 12
    • 0037047628 scopus 로고    scopus 로고
    • Recent segmental duplications in the human genome
    • Bailey JA, Gu Z, Clark RA et al. Recent segmental duplications in the human genome. Science 2002: 297 (5583): 1003-1007.
    • (2002) Science , vol.297 , Issue.5583 , pp. 1003-1007
    • Bailey, J.A.1    Gu, Z.2    Clark, R.A.3
  • 13
    • 0036071427 scopus 로고    scopus 로고
    • Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
    • Giglio S, Calvari V, Gregato G et al. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet 2002: 71 (2): 276-285.
    • (2002) Am. J. Hum. Genet. , vol.71 , Issue.2 , pp. 276-285
    • Giglio, S.1    Calvari, V.2    Gregato, G.3
  • 14
    • 0034028921 scopus 로고    scopus 로고
    • Structure of chromosomal duplicons and their role in mediating human genomic disorders
    • Ji Y, Eichler EE, Schwartz S, Nicholls RD. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 2000: 10 (5): 597-610.
    • (2000) Genome Res. , vol.10 , Issue.5 , pp. 597-610
    • Ji, Y.1    Eichler, E.E.2    Schwartz, S.3    Nicholls, R.D.4
  • 15
    • 1842526843 scopus 로고    scopus 로고
    • Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease
    • Spec No
    • Shaw CJ, Lupski JR. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 2004: 13 Spec No. 1: R57-R64.
    • (2004) Hum. Mol. Genet. , vol.13 , Issue.1
    • Shaw, C.J.1    Lupski, J.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.