메뉴 건너뛰기




Volumn 7, Issue 4, 1999, Pages 421-426

Mosaic trisomy 17 in amniocytes: Phenotypic outcome, tissue distribution, and uniparental disomy studies

Author keywords

Aneuploidy; Chromosome 17; Mosaicism; Prenatal diagnosis; Uniparental disomy

Indexed keywords

AMNIOTIC FLUID CELL; ARTICLE; CASE REPORT; CHROMOSOME 17; CHROMOSOME MOSAICISM; EMBRYO; EMBRYO DEVELOPMENT; FACE DYSMORPHIA; FEMALE; FETUS; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRAUTERINE GROWTH RETARDATION; LYMPHOCYTE; MALE; NEWBORN; PHENOTYPE; PLACENTA; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN FIBROBLAST; TISSUE DISTRIBUTION; TRISOMY; UNIPARENTAL DISOMY;

EID: 0032977587     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200333     Document Type: Article
Times cited : (30)

References (11)
  • 1
    • 0026741249 scopus 로고
    • Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies
    • Hsu LYF, Kaffe S, Jenkins EJ et al: Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenat Diagn 1992; 12: 555-573.
    • (1992) Prenat Diagn , vol.12 , pp. 555-573
    • Hsu, L.Y.F.1    Kaffe, S.2    Jenkins, E.J.3
  • 2
    • 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 LYF, Yu M-T, Neu RL 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
  • 5
    • 0025324165 scopus 로고
    • Analysis of mosaic states in amniotic fluid using the in situ colony technique
    • Welborn JL, Lewis JP: 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
  • 6
    • 0025878403 scopus 로고
    • Mosaic trisomy 17 in amniotic fluid cells not confirmed in the newborn
    • Djalali M, Barbi G, Grab D: Mosaic trisomy 17 in amniotic fluid cells not confirmed in the newborn. Prenat Diagn 1991; 11: 399-402.
    • (1991) Prenat Diagn , vol.11 , pp. 399-402
    • Djalali, M.1    Barbi, G.2    Grab, D.3
  • 7
    • 0030604921 scopus 로고    scopus 로고
    • Trisomy 17 detected in amniotic fluid cells but not in newborn infant
    • Butler MG, Neu RL, Mitchell K: Trisomy 17 detected in amniotic fluid cells but not in newborn infant. Am J Med Genet 1996; 65: 247-248.
    • (1996) Am J Med Genet , vol.65 , pp. 247-248
    • Butler, M.G.1    Neu, R.L.2    Mitchell, K.3
  • 8
    • 0031729664 scopus 로고    scopus 로고
    • Further observations of true mosaic trisomy 17 ascertained in amniotic fluid cell cultures
    • Djalali M, Barbi G, Mueller-Navia J et al: Further observations of true mosaic trisomy 17 ascertained in amniotic fluid cell cultures. Prenat Diagn 1998; 18: 1191-1194.
    • (1998) Prenat Diagn , vol.18 , pp. 1191-1194
    • Djalali, M.1    Barbi, G.2    Mueller-Navia, J.3
  • 9
    • 0000901401 scopus 로고
    • 46,XY/47,XY, + 17 mosaicism in a newborn with multiple malformations
    • Bullerdiek J, Bartnitzke S: 46,XY/47,XY, + 17 mosaicism in a newborn with multiple malformations. Hum Genet 1992; 60: 296.
    • (1992) Hum Genet , vol.60 , pp. 296
    • Bullerdiek, J.1    Bartnitzke, S.2
  • 11
    • 0026856030 scopus 로고
    • Chromosome mosaicism in CVS and amniocentesis samples
    • Teshima IE, Kalousek DK, Vekemans MJJ et al: Chromosome mosaicism in CVS and amniocentesis samples. Prenat Diagn 1992; 12: 443-459.
    • (1992) Prenat Diagn , vol.12 , pp. 443-459
    • Teshima, I.E.1    Kalousek, D.K.2    Vekemans, M.J.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.