메뉴 건너뛰기




Volumn 112, Issue 2, 2002, Pages 123-132

Evidence for imprinting on chromosome 16: The effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies

Author keywords

Chromosome 16; Imprinting; Mosaicism; Trisomy

Indexed keywords

ARTICLE; AUTOSOME MOSAICISM; CHROMOSOME 16; CONTROLLED STUDY; DISEASE SEVERITY; FETUS OUTCOME; GENETIC COUNSELING; GENOME IMPRINTING; HUMAN; MAJOR CLINICAL STUDY; PRENATAL SCREENING; PRIORITY JOURNAL; TRISOMY; UNIPARENTAL DISOMY;

EID: 0036807443     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10702     Document Type: Article
Times cited : (41)

References (76)
  • 2
    • 0032421584 scopus 로고    scopus 로고
    • Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature
    • Astner A, Schwinger E, Caliebe A, Jonat W, Gembruch U. 1998. Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature. Prenat Diagn 18:1308-1315.
    • (1998) Prenat Diagn , vol.18 , pp. 1308-1315
    • Astner, A.1    Schwinger, E.2    Caliebe, A.3    Jonat, W.4    Gembruch, U.5
  • 3
    • 0032167660 scopus 로고    scopus 로고
    • Trisomy 16 and trisomy 16 mosaicism: A review
    • Benn P. 1998. Trisomy 16 and trisomy 16 mosaicism: A review. Am J Med Genet 79:121-133.
    • (1998) Am J Med Genet , vol.79 , pp. 121-133
    • Benn, P.1
  • 4
    • 0026445152 scopus 로고
    • Association between confined placental trisomy, fetal uniparental disomy, and early intrauterine growth retardation
    • Bennett P, Vaughan J, Henderson D, Loughna S, Moore G. 1992. Association between confined placental trisomy, fetal uniparental disomy, and early intrauterine growth retardation. Lancet 340:1284-1285.
    • (1992) Lancet , vol.340 , pp. 1284-1285
    • Bennett, P.1    Vaughan, J.2    Henderson, D.3    Loughna, S.4    Moore, G.5
  • 5
    • 0029998013 scopus 로고    scopus 로고
    • Clinical significance of placentaconfined nonmosaic trisomy 16
    • Brandenburg H, Los FJ, In't Veld P. 1996. Clinical significance of placentaconfined nonmosaic trisomy 16. Am J Obstet Gynecol 174:1663-1664.
    • (1996) Am J Obstet Gynecol , vol.174 , pp. 1663-1664
    • Brandenburg, H.1    Los, F.J.2    In't Veld, P.3
  • 8
    • 0011291558 scopus 로고
    • Discordant maternal serum and amniotic fluid alpha-fetoprotein results in mosaic trisomy 16 pregnancies
    • Davies GAL, Gad IK, Diamond T, Papenhausen P. 1995. Discordant maternal serum and amniotic fluid alpha-fetoprotein results in mosaic trisomy 16 pregnancies. Am J Hum Genet 57:A278.
    • (1995) Am J Hum Genet , vol.57
    • Davies, G.A.L.1    Gad, I.K.2    Diamond, T.3    Papenhausen, P.4
  • 12
    • 0018939994 scopus 로고
    • A new genetic concept: Uniparental disomy and its potential effect, isodisomy
    • Engel E. 1980. A new genetic concept: Uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6:137-143.
    • (1980) Am J Med Genet , vol.6 , pp. 137-143
    • Engel, E.1
  • 17
    • 0029149830 scopus 로고
    • Postnatally confirmed trisomy 16 mosaicism: Follow-up on a previously reported patient
    • Hajianpour MJ. 1995. Postnatally confirmed trisomy 16 mosaicism: Follow-up on a previously reported patient. Prenat Diagn 15:877-879.
    • (1995) Prenat Diagn , vol.15 , pp. 877-879
    • Hajianpour, M.J.1
  • 18
    • 0011371295 scopus 로고
    • Trisomy 16 mosaicism in amniotic fluid cells and poor pregnancy outcome associated with unexplained elevated maternal serum alpha-fetoprotein
    • Hajianpour MJ, Randolph LM, Parvizpour D, Habibian R. 1992. Trisomy 16 mosaicism in amniotic fluid cells and poor pregnancy outcome associated with unexplained elevated maternal serum alpha-fetoprotein. Am J Hum Genet 51:A409.
    • (1992) Am J Hum Genet , vol.51
    • Hajianpour, M.J.1    Randolph, L.M.2    Parvizpour, D.3    Habibian, R.4
  • 20
    • 0028973418 scopus 로고
    • th-j mouse mutation: Effects on mouse peri-implantation development and identification of two candidate genes
    • th-j mouse mutation: Effects on mouse peri-implantation development and identification of two candidate genes. Dev Biol 172:253-263.
    • (1995) Dev Biol , vol.172 , pp. 253-263
    • Hendrey, J.1    Lin, D.2    Dziadek, M.3
  • 21
    • 0002709987 scopus 로고
    • Non-viable trisomies confined to the placenta leading to poor pregnancy outcome
    • Holzgreve R, Exeler R, Holzgreve W, Wittwer B, Miny P. 1992. Non-viable trisomies confined to the placenta leading to poor pregnancy outcome. Prenat Diagn 12 (suppl):S95.
    • (1992) Prenat Diagn , vol.12 , Issue.SUPPL.
    • Holzgreve, R.1    Exeler, R.2    Holzgreve, W.3    Wittwer, B.4    Miny, P.5
  • 26
    • 0034017904 scopus 로고    scopus 로고
    • Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: Case report
    • Johnson P, Duncan K, Blunt S, Bell G, Ali Z, Cox P, Moore GE. 2000. Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: Case report. Prenat Diagn 20:417-421.
    • (2000) Prenat Diagn , vol.20 , pp. 417-421
    • Johnson, P.1    Duncan, K.2    Blunt, S.3    Bell, G.4    Ali, Z.5    Cox, P.6    Moore, G.E.7
  • 27
    • 0028676108 scopus 로고
    • Genomic imprinting related to prenatal diagnosis
    • Kalousek DK, Barrett I. 1994. Genomic imprinting related to prenatal diagnosis. Prenat Diagn 14:1191-1201.
    • (1994) Prenat Diagn , vol.14 , pp. 1191-1201
    • Kalousek, D.K.1    Barrett, I.2
  • 28
    • 0025991931 scopus 로고
    • Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism
    • Kalousek DK, Howard-Peebles PN, Olson SB, Barrett IJ, Dorfmann A, Black SH, Schulman JD, Wilson RD. 1991. Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenat Diagn 11:743-750.
    • (1991) Prenat Diagn , vol.11 , pp. 743-750
    • Kalousek, D.K.1    Howard-Peebles, P.N.2    Olson, S.B.3    Barrett, I.J.4    Dorfmann, A.5    Black, S.H.6    Schulman, J.D.7    Wilson, R.D.8
  • 30
    • 0024996869 scopus 로고
    • Intrauterine growth retardation associated with chromosomal aneuploidy confined to the placenta. Three observations: Triple trisomy 6, 21, 22; trisomy 16; and trisomy 18
    • Kennerknecht I, Terinde R. 1990. Intrauterine growth retardation associated with chromosomal aneuploidy confined to the placenta. Three observations: Triple trisomy 6, 21, 22; trisomy 16; and trisomy 18. Prenat Diagn 10:539-544.
    • (1990) Prenat Diagn , vol.10 , pp. 539-544
    • Kennerknecht, I.1    Terinde, R.2
  • 31
    • 0027343880 scopus 로고
    • Homology of a 130-kb region enclosing the α-globin gene cluster, the α-locus controlling region, and two non-globin genes in human and mouse
    • Kielman MF, Smits R, Devi TS, Fodde R, Bernini LF. 1993. Homology of a 130-kb region enclosing the α-globin gene cluster, the α-locus controlling region, and two non-globin genes in human and mouse. Mamm Genome 4:314-323.
    • (1993) Mamm Genome , vol.4 , pp. 314-323
    • Kielman, M.F.1    Smits, R.2    Devi, T.S.3    Fodde, R.4    Bernini, L.F.5
  • 32
    • 0029926012 scopus 로고    scopus 로고
    • Characterization and comparison of the human and mouse Dist1 / α-globin complex reveals a tightly packed multiple gene cluster containing differentially expressed transcription units
    • Kielman MF, Smits R, Hof I, Bernini LF. 1996. Characterization and comparison of the human and mouse Dist1 / α-globin complex reveals a tightly packed multiple gene cluster containing differentially expressed transcription units. Genomics 32:341-351.
    • (1996) Genomics , vol.32 , pp. 341-351
    • Kielman, M.F.1    Smits, R.2    Hof, I.3    Bernini, L.F.4
  • 34
    • 0033613977 scopus 로고    scopus 로고
    • Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15
    • Kotzot D. 1999. Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 82:265-274.
    • (1999) Am J Med Genet , vol.82 , pp. 265-274
    • Kotzot, D.1
  • 35
    • 0029162269 scopus 로고
    • Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
    • Ledbetter DH, Engel E. 1995. Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764.
    • (1995) Hum Mol Genet , vol.4 , pp. 1757-1764
    • Ledbetter, D.H.1    Engel, E.2
  • 36
    • 0032918058 scopus 로고    scopus 로고
    • Screening of human placentas for chromosomal mosaicism using comparative genomic hybridization
    • Lestou VS, Lomax BL, Barrett IJ, Kalousek DK. 1999. Screening of human placentas for chromosomal mosaicism using comparative genomic hybridization. Teratology 59:325-330.
    • (1999) Teratology , vol.59 , pp. 325-330
    • Lestou, V.S.1    Lomax, B.L.2    Barrett, I.J.3    Kalousek, D.K.4
  • 39
    • 0031030493 scopus 로고    scopus 로고
    • The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of thirty-five severely affected babies
    • Moore GE, Ali Z, Khan RU, Blunt S, Bennett PR, Vaughan JI. 1997. The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of thirty-five severely affected babies. Am J Obstet Gynecol 176:294-299.
    • (1997) Am J Obstet Gynecol , vol.176 , pp. 294-299
    • Moore, G.E.1    Ali, Z.2    Khan, R.U.3    Blunt, S.4    Bennett, P.R.5    Vaughan, J.I.6
  • 40
    • 7344254106 scopus 로고    scopus 로고
    • A catalogue of imprinted genes and parent-of-origin effects in humans and animals
    • Morison IM, Reeve AE. 1998. A catalogue of imprinted genes and parent-of-origin effects in humans and animals. Hum Mol Genet 7:1599-1609.
    • (1998) Hum Mol Genet , vol.7 , pp. 1599-1609
    • Morison, I.M.1    Reeve, A.E.2
  • 46
    • 0032904353 scopus 로고    scopus 로고
    • Rapid detection of chromosomal aneuploidies by quantitative fluorescence PCR: First application on 247 chorionic villus samples
    • Pertl B, Kopp S, Kroisel PM, Tului L, Brambati B, Adinolfi M. 1999. Rapid detection of chromosomal aneuploidies by quantitative fluorescence PCR: First application on 247 chorionic villus samples. J Med Genet 36:300-303.
    • (1999) J Med Genet , vol.36 , pp. 300-303
    • Pertl, B.1    Kopp, S.2    Kroisel, P.M.3    Tului, L.4    Brambati, B.5    Adinolfi, M.6
  • 48
    • 0034098812 scopus 로고    scopus 로고
    • Mechanisms leading to uniparental disomy and their clinical consequences
    • Robinson WP. 2000. Mechanisms leading to uniparental disomy and their clinical consequences. BioEssays 22:452-459.
    • (2000) BioEssays , vol.22 , pp. 452-459
    • Robinson, W.P.1
  • 49
    • 16944367292 scopus 로고    scopus 로고
    • Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction
    • Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK. 1997. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 60:917-927.
    • (1997) Am J Hum Genet , vol.60 , pp. 917-927
    • Robinson, W.P.1    Barrett, I.J.2    Bernard, L.3    Telenius, A.4    Bernasconi, F.5    Wilson, R.D.6    Best, R.G.7    Howard-Peebles, P.N.8    Langlois, S.9    Kalousek, D.K.10
  • 54
    • 0024343937 scopus 로고
    • Chromosome mosaicism of the placenta: A cause of developmental failure of the fetus?
    • Schwinger E, Seidl E, Klink F, Rehdar H. 1989. Chromosome mosaicism of the placenta: A cause of developmental failure of the fetus? Prenat Diagn 9:639-647.
    • (1989) Prenat Diagn , vol.9 , pp. 639-647
    • Schwinger, E.1    Seidl, E.2    Klink, F.3    Rehdar, H.4
  • 55
    • 0024360187 scopus 로고
    • Chromosome maps of man and mouse IV
    • Sirchia SM, Garagiola I, Colucii G, Guerneri S, Lalatta F, Grimoldi MG
    • Searle AG, Peters J, Lyon MF, Hall JG, Evans EP, Edwards JH, Buckle VJ. 1989. Chromosome maps of man and mouse IV. Ann Hum Genet 53:89-140. Sirchia SM, Garagiola I, Colucii G, Guerneri S, Lalatta F, Grimoldi MG,
    • (1989) Ann Hum Genet , vol.53 , pp. 89-140
    • Searle, A.G.1    Peters, J.2    Lyon, M.F.3    Hall, J.G.4    Evans, E.P.5    Edwards, J.H.6    Buckle, V.J.7
  • 56
    • 0031935142 scopus 로고    scopus 로고
    • Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism
    • Simoni G. 1998. Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism. Prenat Diagn 18:201-206.
    • (1998) Prenat Diagn , vol.18 , pp. 201-206
    • Simoni, G.1
  • 57
    • 0011378492 scopus 로고    scopus 로고
    • Prenatally diagnosed trisomy 16 mosaicism which escapes postnatal detection in an infant with congenital anomalies
    • Smith R, Zackai EH, Donnenfeld AE. 1997. Prenatally diagnosed trisomy 16 mosaicism which escapes postnatal detection in an infant with congenital anomalies. Am J Hum Genet 61:A140.
    • (1997) Am J Hum Genet , vol.61
    • Smith, R.1    Zackai, E.H.2    Donnenfeld, A.E.3
  • 59
    • 0032472038 scopus 로고    scopus 로고
    • Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism
    • Stavropoulos DJ, Bick D, Kalousek DK. 1998. Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism. Am J Hum Genet 63:1912-1914.
    • (1998) Am J Hum Genet , vol.63 , pp. 1912-1914
    • Stavropoulos, D.J.1    Bick, D.2    Kalousek, D.K.3
  • 62
    • 0033593288 scopus 로고    scopus 로고
    • The sins of the fathers and mothers: Genomic imprinting in mammalian development
    • Tilghman SM. 1999. The sins of the fathers and mothers: Genomic imprinting in mammalian development. Cell 96:185-193.
    • (1999) Cell , vol.96 , pp. 185-193
    • Tilghman, S.M.1
  • 63
    • 0014525649 scopus 로고
    • Intrauterine growth of live-born Caucasian infants at sea-level: Standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation
    • Usher R, McLean F. 1969. Intrauterine growth of live-born Caucasian infants at sea-level: Standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation. J Pediatr 74:901-910.
    • (1969) J Pediatr , vol.74 , pp. 901-910
    • Usher, R.1    McLean, F.2
  • 65
    • 0035099754 scopus 로고    scopus 로고
    • Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results
    • Van Opstal D, van den Berg C, Galjaard RJH, Los FJ. 2001. Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results. Prenat Diagn 21:75-80.
    • (2001) Prenat Diagn , vol.21 , pp. 75-80
    • Van Opstal, D.1    Van den Berg, C.2    Galjaard, R.J.H.3    Los, F.J.4
  • 66
    • 0027941823 scopus 로고
    • Human maternal uniparental disomy for chromosome 16 and fetal development
    • Vaughan J, Ali Z, Bower S, Bennett P, Chard T, Moore G. 1994. Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn 14:751-756.
    • (1994) Prenat Diagn , vol.14 , pp. 751-756
    • Vaughan, J.1    Ali, Z.2    Bower, S.3    Bennett, P.4    Chard, T.5    Moore, G.6
  • 68
    • 24844465362 scopus 로고    scopus 로고
    • Centromeric DNA break in a 10;16 whole arm translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16
    • Wang J-C, Mamunes P, Kou S-Y, Mao R, Schmidt J, Habibian R, Hsu WT. 1997. Centromeric DNA break in a 10;16 whole arm translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16. Am J Hum Genet 61:A142.
    • (1997) Am J Hum Genet , vol.61
    • Wang, J.-C.1    Mamunes, P.2    Kou, S.-Y.3    Mao, R.4    Schmidt, J.5    Habibian, R.6    Hsu, W.T.7
  • 69
    • 0031740809 scopus 로고    scopus 로고
    • Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16
    • Wang J-C C, Mamunes P, Kou S-Y, Schmidt J, Mao R, Hsu W-T. 1998. Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16. Am J Med Genet 80:418-422.
    • (1998) Am J Med Genet , vol.80 , pp. 418-422
    • Wang, J.-C.C.1    Mamunes, P.2    Kou, S.-Y.3    Schmidt, J.4    Mao, R.5    Hsu, W.-T.6
  • 71
    • 0026534971 scopus 로고
    • Apparent non-mosaic trisomy 16 in chorionic villi: Diagnostic dilemma or clinically significant finding?
    • Williams J III, Wang BBT, Rubin CH, Clark RD, Mohandas TK. 1992. Apparent non-mosaic trisomy 16 in chorionic villi: Diagnostic dilemma or clinically significant finding? Prenat Diagn 12:163-168.
    • (1992) Prenat Diagn , vol.12 , pp. 163-168
    • Williams J. III1    Wang, B.B.T.2    Rubin, C.H.3    Clark, R.D.4    Mohandas, T.K.5
  • 72
    • 0028925188 scopus 로고
    • An audit oftrisomy 16 in man
    • Wolstenholme J. 1995. An audit oftrisomy 16 in man. Prenat Diagn 15:109-121.
    • (1995) Prenat Diagn , vol.15 , pp. 109-121
    • Wolstenholme, J.1
  • 73
    • 0029950129 scopus 로고    scopus 로고
    • Confined placental mosaicism for trisomies 2, 3, 6, 8, 9, 16, and 22: Their incidence, likely origins, and mechanisms for cell lineage compartmentalization
    • Wolstenholme J. 1996. Confined placental mosaicism for trisomies 2, 3, 6, 8, 9, 16, and 22: Their incidence, likely origins, and mechanisms for cell lineage compartmentalization. Prenat Diagn 16:511-524.
    • (1996) Prenat Diagn , vol.16 , pp. 511-524
    • Wolstenholme, J.1
  • 74
    • 0031004441 scopus 로고    scopus 로고
    • Maternal uniparental disomy for chromosome 16: Case report
    • Woo V, Bridge PJ, Bamforth JS. 1997. Maternal uniparental disomy for chromosome 16: Case report. Am J Med Genet 70:387-390.
    • (1997) Am J Med Genet , vol.70 , pp. 387-390
    • Woo, V.1    Bridge, P.J.2    Bamforth, J.S.3
  • 75
    • 0032758865 scopus 로고    scopus 로고
    • Parental sex effect in families with alcoholism
    • Wyszynski DF, Panhuysen CI. 1999. Parental sex effect in families with alcoholism. Genet Epidemiol 17Suppl 1:S409-S413.
    • (1999) Genet Epidemiol , vol.17 , Issue.SUPPL. 1
    • Wyszynski, D.F.1    Panhuysen, C.I.2
  • 76
    • 0028792084 scopus 로고
    • Elevated alpha-fetoprotein and human chorionic gonadotropin as a marker for placental trisomy 16 in the second trimester?
    • Zimmerman R, Lauper U, Streichier A, Huch R, Hugh A. 1995. Elevated alpha-fetoprotein and human chorionic gonadotropin as a marker for placental trisomy 16 in the second trimester? Prenat Diagn 15:1121-1124.
    • (1995) Prenat Diagn , vol.15 , pp. 1121-1124
    • Zimmerman, R.1    Lauper, U.2    Streichier, A.3    Huch, R.4    Hugh, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.