메뉴 건너뛰기




Volumn 50, Issue 3, 2011, Pages 331-338

Prenatal diagnosis of mosaic trisomy 8: Clinical report and literature review

Author keywords

Mosaic trisomy 8; Mosaicism; Prenatal diagnosis; Trisomy 8

Indexed keywords

ADULT; AMNIOCENTESIS; AMNION CELL; ARTICLE; CASE REPORT; CHILD GROWTH; COMPARATIVE GENOMIC HYBRIDIZATION; CORDOCENTESIS; CYTOGENETICS; FEMALE; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GESTATIONAL AGE; HUMAN; HUMAN CELL; KARYOTYPING; MALE; MATERNAL AGE; MEDICAL LITERATURE; MENTAL DEVELOPMENT; MOSAICISM; NEWBORN; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PROGNOSIS; TRISOMY 8;

EID: 82455192389     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2011.07.013     Document Type: Article
Times cited : (33)

References (31)
  • 1
    • 0031749674 scopus 로고    scopus 로고
    • Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability
    • Jordan M.A., Marques I., Rosendorff J., de Ravel T.J. Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability. Genet Couns 1998, 9:139-146.
    • (1998) Genet Couns , vol.9 , pp. 139-146
    • Jordan, M.A.1    Marques, I.2    Rosendorff, J.3    de Ravel, T.J.4
  • 2
    • 0036050523 scopus 로고    scopus 로고
    • Trisomy 8 mosaicism syndrome
    • WiŚniewska M., Mazurek M. Trisomy 8 mosaicism syndrome. J Appl Genet 2002, 43:115-118.
    • (2002) J Appl Genet , vol.43 , pp. 115-118
    • Wiśniewska, M.1    Mazurek, M.2
  • 3
    • 82455173235 scopus 로고    scopus 로고
    • Trisomy 8 mosaicism
    • Water de Gruter, GmbH & Co, Berlin, A. Schinzel (Ed.)
    • Schinzel A. Trisomy 8 mosaicism. Catalogue of unbalanced chromosome aberrations in man 2001, 384-391. Water de Gruter, GmbH & Co, Berlin. 2nd ed. A. Schinzel (Ed.).
    • (2001) Catalogue of unbalanced chromosome aberrations in man , pp. 384-391
    • Schinzel, A.1
  • 5
    • 13244249913 scopus 로고    scopus 로고
    • Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis
    • Donaghue C., Mann K., Docherry Z., Ogilvie C.M. Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenat Diagn 2005, 25:65-72.
    • (2005) Prenat Diagn , vol.25 , pp. 65-72
    • Donaghue, C.1    Mann, K.2    Docherry, Z.3    Ogilvie, C.M.4
  • 6
  • 7
    • 33746167778 scopus 로고    scopus 로고
    • Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    • Shaffer L.G., Kashork C.D., Saleki R., Rorem E., Sundin K., Ballif B.C., et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006, 149:98-102.
    • (2006) J Pediatr , vol.149 , pp. 98-102
    • Shaffer, L.G.1    Kashork, C.D.2    Saleki, R.3    Rorem, E.4    Sundin, K.5    Ballif, B.C.6
  • 8
    • 37349042458 scopus 로고    scopus 로고
    • Resolution of trisomic mosaicism in prenatal diagnosis: estimated performance of a 50K SNP microarray
    • Cross J., Peters G., Wu Z., Brohede J., Hannan G.N. Resolution of trisomic mosaicism in prenatal diagnosis: estimated performance of a 50K SNP microarray. Prenat Diagn 2007, 27:1197-1204.
    • (2007) Prenat Diagn , vol.27 , pp. 1197-1204
    • Cross, J.1    Peters, G.2    Wu, Z.3    Brohede, J.4    Hannan, G.N.5
  • 9
  • 10
    • 33845995116 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8
    • Varon R., Müer A., Wagner K., Zierler H., Sodia S., Rauter L., et al. Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8. Am J Med Genet 2007, 143A:92-94.
    • (2007) Am J Med Genet , vol.143 A , pp. 92-94
    • Varon, R.1    Müer, A.2    Wagner, K.3    Zierler, H.4    Sodia, S.5    Rauter, L.6
  • 11
    • 0028242883 scopus 로고
    • Trisomy 8 mosaicism in chorionic villus sampling: case report and counselling issues
    • Klein J., Graham J.M., Platt L.D., Schreck R. Trisomy 8 mosaicism in chorionic villus sampling: case report and counselling issues. Prenat Diagn 1994, 14:451-454.
    • (1994) Prenat Diagn , vol.14 , pp. 451-454
    • Klein, J.1    Graham, J.M.2    Platt, L.D.3    Schreck, R.4
  • 13
    • 0028811551 scopus 로고
    • Difficulties in prenatal detection of mosaic trisomy 8
    • Hanna J.S., Neu R.L., Barton J.R. Difficulties in prenatal detection of mosaic trisomy 8. Prenat Diagn 1995, 15:1196-1197.
    • (1995) Prenat Diagn , vol.15 , pp. 1196-1197
    • Hanna, J.S.1    Neu, R.L.2    Barton, J.R.3
  • 16
    • 0019785371 scopus 로고
    • Antenatal diagnosis of mosaic trisomy 8 confirmed in fetal tissues
    • Swisshelm K., Rodriquez M.L., Luthy D., Salk D., Norwood T. Antenatal diagnosis of mosaic trisomy 8 confirmed in fetal tissues. Clin Genet 1981, 20:276-280.
    • (1981) Clin Genet , vol.20 , pp. 276-280
    • Swisshelm, K.1    Rodriquez, M.L.2    Luthy, D.3    Salk, D.4    Norwood, T.5
  • 17
    • 0019397431 scopus 로고
    • Chromosomal mosaicism in amniocentesis: an indication for fetoscopy?
    • Vekemans M., Perry T.B., Hamilton E. Chromosomal mosaicism in amniocentesis: an indication for fetoscopy?. N Engl J Med 1981, 304:52-53.
    • (1981) N Engl J Med , vol.304 , pp. 52-53
    • Vekemans, M.1    Perry, T.B.2    Hamilton, E.3
  • 18
    • 0023840502 scopus 로고
    • True mosaicism and pseudomosaicism in second trimester fetal karyotyping. A case of mosaic trisomy 8
    • Camurri L., Caselli L., Manenti E. True mosaicism and pseudomosaicism in second trimester fetal karyotyping. A case of mosaic trisomy 8. Prenat Diagn 1988, 8:168.
    • (1988) Prenat Diagn , vol.8 , pp. 168
    • Camurri, L.1    Caselli, L.2    Manenti, E.3
  • 19
    • 0025904315 scopus 로고
    • A three-year follow-up on a child with low level trisomy 8 mosaicism which was diagnosed prenatally
    • Camurri L., Chiesi A. A three-year follow-up on a child with low level trisomy 8 mosaicism which was diagnosed prenatally. Prenat Diagn 1991, 11:59-62.
    • (1991) Prenat Diagn , vol.11 , pp. 59-62
    • Camurri, L.1    Chiesi, A.2
  • 20
    • 0025324165 scopus 로고
    • Analysis of mosaic states in amniotic fluid using the in situ colony technique
    • Welborn J.L., Lewis J.P. Analysis of mosaic states in amniotic fluid using the in situ colony technique. Clin Genet 1990, 38:14-20.
    • (1990) Clin Genet , vol.38 , pp. 14-20
    • Welborn, J.L.1    Lewis, J.P.2
  • 22
    • 0029023115 scopus 로고
    • Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks
    • Guichet A., Briault S., Toutain A., Paillet C., Descamps P., Pierre F., et al. Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks. Prenat Diagn 1995, 15:769-772.
    • (1995) Prenat Diagn , vol.15 , pp. 769-772
    • Guichet, A.1    Briault, S.2    Toutain, A.3    Paillet, C.4    Descamps, P.5    Pierre, F.6
  • 23
    • 0030973681 scopus 로고    scopus 로고
    • Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations
    • Hsu L.Y.F., Yu M.-T., Neu R.-L., Van Dyke D.L., Benn P.A., Bradshaw C.L., et al. Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations. Prenat Diagn 1997, 17:201-242.
    • (1997) Prenat Diagn , vol.17 , pp. 201-242
    • Hsu, L.Y.F.1    Yu, M.-T.2    Neu, R.-L.3    Van Dyke, D.L.4    Benn, P.A.5    Bradshaw, C.L.6
  • 24
    • 0030671373 scopus 로고    scopus 로고
    • Mosaicism in trisomy 8: phenotype differences according to tissular repartition of normal and trisomic clones
    • Miller K., Arslan-Kirchner A., Schulze B., Dudel-Neujahr A., Morlot M., Burck U., et al. Mosaicism in trisomy 8: phenotype differences according to tissular repartition of normal and trisomic clones. Ann Génét 1997, 40:181-184.
    • (1997) Ann Génét , vol.40 , pp. 181-184
    • Miller, K.1    Arslan-Kirchner, A.2    Schulze, B.3    Dudel-Neujahr, A.4    Morlot, M.5    Burck, U.6
  • 25
    • 0031854490 scopus 로고    scopus 로고
    • Prenatal diagnosis of mosaic trisomy 8 with investigations of the extent and origin of trisomic cells
    • Webb A.L., Wolstenholme J., Evans J., Macphail S., Goodship J. Prenatal diagnosis of mosaic trisomy 8 with investigations of the extent and origin of trisomic cells. Prenat Diagn 1998, 18:737-741.
    • (1998) Prenat Diagn , vol.18 , pp. 737-741
    • Webb, A.L.1    Wolstenholme, J.2    Evans, J.3    Macphail, S.4    Goodship, J.5
  • 26
    • 0035004534 scopus 로고    scopus 로고
    • Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow
    • Campbell S., Mavrides E., Prefumo F., Presti F., Carvalho J.S. Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow. Ultrasound Obstet Gynecol 2001, 17:341-343.
    • (2001) Ultrasound Obstet Gynecol , vol.17 , pp. 341-343
    • Campbell, S.1    Mavrides, E.2    Prefumo, F.3    Presti, F.4    Carvalho, J.S.5
  • 27
    • 12244312758 scopus 로고    scopus 로고
    • Trisomy 8 mosaicism: selective growth advantage of normal cells vs. growth disadvantage of trisomy 8 cells
    • Hulley B.J., Hummel M., Cook L.L., Boyd B.K., Wenger S.L. Trisomy 8 mosaicism: selective growth advantage of normal cells vs. growth disadvantage of trisomy 8 cells. Am J Med Genet 2003, 116A:144-146.
    • (2003) Am J Med Genet , vol.116 A , pp. 144-146
    • Hulley, B.J.1    Hummel, M.2    Cook, L.L.3    Boyd, B.K.4    Wenger, S.L.5
  • 29
    • 0035108625 scopus 로고    scopus 로고
    • Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn
    • Miller R., Stephan M.J., Hume R.F., Walker W.O., Kelly P., Calhoun B.C., et al. Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn. Fetal Diagn Ther 2001, 16:120-122.
    • (2001) Fetal Diagn Ther , vol.16 , pp. 120-122
    • Miller, R.1    Stephan, M.J.2    Hume, R.F.3    Walker, W.O.4    Kelly, P.5    Calhoun, B.C.6
  • 30
    • 34248676302 scopus 로고    scopus 로고
    • Warkany syndrome associated with agenesis of the corpus callosum
    • [in Bulgarian]
    • Markov D., Ivanov S., Popivanova P. Warkany syndrome associated with agenesis of the corpus callosum. Akush Ginekol 2007, 46:48-50. [in Bulgarian].
    • (2007) Akush Ginekol , vol.46 , pp. 48-50
    • Markov, D.1    Ivanov, S.2    Popivanova, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.