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Volumn 137 A, Issue 1, 2005, Pages 94-97

Long term follow-up of developmental delay in a child with prenatally-diagnosed trisomy 20 mosaicism [1]

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME 20; DEVELOPMENTAL DISORDER; FEMALE; GENETIC COUNSELING; HUMAN; LETTER; LONG TERM CARE; MOSAICISM; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TRISOMY; TRISOMY 20 MOSAICISM;

EID: 23344433482     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30825     Document Type: Letter
Times cited : (10)

References (25)
  • 1
    • 0035869116 scopus 로고    scopus 로고
    • Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development
    • Baty BJ, Olson SB, Magenis RE, Carey JC. 2001. Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development. Am J Med Genet 99:210-216.
    • (2001) Am J Med Genet , vol.99 , pp. 210-216
    • Baty, B.J.1    Olson, S.B.2    Magenis, R.E.3    Carey, J.C.4
  • 2
    • 0018529234 scopus 로고
    • Prenatal diagnosis: Results of 1530 amniotic taps and prospective study of 1023 cases
    • Boue J, Morer I, Laisney V, Boue A. 1979. Prenatal diagnosis: Results of 1530 amniotic taps and prospective study of 1023 cases. Nouv Presse Med 8:2949-2953.
    • (1979) Nouv Presse Med , vol.8 , pp. 2949-2953
    • Boue, J.1    Morer, I.2    Laisney, V.3    Boue, A.4
  • 3
    • 0021131817 scopus 로고
    • The European collaborative study on prenatal diagnosis: Mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures
    • Bui TH, Iselius L, Lindsten J. 1984. The European collaborative study on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures. Prenat Diagn 4:145-162.
    • (1984) Prenat Diagn , vol.4 , pp. 145-162
    • Bui, T.H.1    Iselius, L.2    Lindsten, J.3
  • 7
    • 0035105118 scopus 로고    scopus 로고
    • Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients
    • Eggermann T, Mergenthaler S, Eggermann K, Albers A, Linnemann K, Fusch C, Ranke MB, Wollmann HA. 2001. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients. J Med Genet 38:86-89.
    • (2001) J Med Genet , vol.38 , pp. 86-89
    • Eggermann, T.1    Mergenthaler, S.2    Eggermann, K.3    Albers, A.4    Linnemann, K.5    Fusch, C.6    Ranke, M.B.7    Wollmann, H.A.8
  • 8
    • 0022628642 scopus 로고
    • Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20 mosaicism
    • Holzgreve W, Golabi M, Bradley J. 1986. Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20 mosaicism. Clin Genet 29(4):342-344.
    • (1986) Clin Genet , vol.29 , Issue.4 , pp. 342-344
    • Holzgreve, W.1    Golabi, M.2    Bradley, J.3
  • 9
    • 0021634135 scopus 로고
    • United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis
    • Hsu LYF, Perlis TE. 1984. United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis. Prenat Diagn 4:97-130.
    • (1984) Prenat Diagn , vol.4 , pp. 97-130
    • Hsu, L.Y.F.1    Perlis, T.E.2
  • 10
    • 0023429133 scopus 로고
    • Trisomy 20 mosaicism in prenatal diagnosis - A review and update
    • Hsu LYF, Kaffe S, Perlis TE. 1987. Trisomy 20 mosaicism in prenatal diagnosis - A review and update. Prenat Diagn 7:581-598.
    • (1987) Prenat Diagn , vol.7 , pp. 581-598
    • Hsu, L.Y.F.1    Kaffe, S.2    Perlis, T.E.3
  • 11
    • 0025753402 scopus 로고
    • A revisit of trisomy 20 mosaicism in prenatal diagnosis - An overview of 103 cases
    • Hsu LYF, Kaffe S, Perlis TE. 1991. A revisit of trisomy 20 mosaicism in prenatal diagnosis - An overview of 103 cases. Prenat Diagn 11:7-15.
    • (1991) Prenat Diagn , vol.11 , pp. 7-15
    • Hsu, L.Y.F.1    Kaffe, S.2    Perlis, T.E.3
  • 12
  • 13
    • 0024547811 scopus 로고
    • Chromosome analysis from urinary sediment: Postnatal confirmation of a prenatally diagnosed trisomy 20 mosaicism
    • Miny P, Karabacak Z, Hammer P, Schulte-Vallentis M, Holzgreve W. 1989. Chromosome analysis from urinary sediment: Postnatal confirmation of a prenatally diagnosed trisomy 20 mosaicism. New Engl J Med 320:809.
    • (1989) New Engl J Med , vol.320 , pp. 809
    • Miny, P.1    Karabacak, Z.2    Hammer, P.3    Schulte-Vallentis, M.4    Holzgreve, W.5
  • 15
    • 0032574683 scopus 로고    scopus 로고
    • Dilemma of trisomy 20 mosaicism detected prenatally: Is it an innocent finding?
    • Reish O, Wolach B, Amiel A, Kedar I, Dolfin T, Fejgin M. 1998. Dilemma of trisomy 20 mosaicism detected prenatally: Is it an innocent finding? Am J Med Genet 77:72-75.
    • (1998) Am J Med Genet , vol.77 , pp. 72-75
    • Reish, O.1    Wolach, B.2    Amiel, A.3    Kedar, I.4    Dolfin, T.5    Fejgin, M.6
  • 16
    • 0035170103 scopus 로고    scopus 로고
    • Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20
    • Salafsky I, MacGregor S, Claussen U, von Eggeling F. 2001. Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20. Prenat Diagn 21:860-863.
    • (2001) Prenat Diagn , vol.21 , pp. 860-863
    • Salafsky, I.1    MacGregor, S.2    Claussen, U.3    Von Eggeling, F.4
  • 17
    • 0019880060 scopus 로고
    • Prenatal trisomy 20 mosaicism: Origin in fetal kidney cells?
    • 2
    • Schwinger E, Rehder H. 1981. Prenatal trisomy 20 mosaicism: Origin in fetal kidney cells? Lancet 14:2(8255):1111.
    • (1981) Lancet , vol.14 , Issue.8255 , pp. 1111
    • Schwinger, E.1    Rehder, H.2
  • 19
    • 0021957145 scopus 로고
    • Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA)
    • Steinbach P, Djalali M, Rolland MO. 1985. Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA). Prenat Diagn 5(2):163-166.
    • (1985) Prenat Diagn , vol.5 , Issue.2 , pp. 163-166
    • Steinbach, P.1    Djalali, M.2    Rolland, M.O.3
  • 21
    • 0347123258 scopus 로고    scopus 로고
    • Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies
    • Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB. 2004. Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies. Am J Med Genet 124(3):274-279.
    • (2004) Am J Med Genet , vol.124 , Issue.3 , pp. 274-279
    • Venditti, C.P.1    Hunt, P.2    Donnenfeld, A.3    Zackai, E.4    Spinner, N.B.5
  • 23
    • 0035708565 scopus 로고    scopus 로고
    • Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): A case report with long term outcome
    • Warren NS, Soukup S, King JL, St. J. Dugnan P. 2001. Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): A case report with long term outcome. Prenat Diagn 21:1111-1113.
    • (2001) Prenat Diagn , vol.21 , pp. 1111-1113
    • Warren, N.S.1    Soukup, S.2    King, J.L.3    Dugnan, St.J.P.4
  • 24
    • 0019453651 scopus 로고
    • Prenatal detection of Turner's syndrome in conjunction with trisomy 20 mosaicism (45,X/46, X, +0)
    • Watt JL, Couzin DA, Johnston AW, Jandial V, Gray ES. 1981. Prenatal detection of Turner's syndrome in conjunction with trisomy 20 mosaicism (45,X/46, X, +0). J Med Genet 18:225-227.
    • (1981) J Med Genet , vol.18 , pp. 225-227
    • Watt, J.L.1    Couzin, D.A.2    Johnston, A.W.3    Jandial, V.4    Gray, E.S.5
  • 25
    • 0021135603 scopus 로고
    • Canadian collaborative study of mosaicism in amniotic fluid cell cultures
    • Worton RG, Stern RA. 1984. Canadian collaborative study of mosaicism in amniotic fluid cell cultures. Prenat Diagn 4:131-144.
    • (1984) Prenat Diagn , vol.4 , pp. 131-144
    • Worton, R.G.1    Stern, R.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.