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Volumn 26, Issue 4, 2006, Pages 387-391

Prenatal diagnosis of low-level mosaicism for a small XIST-negative supernumerary ring X chromosome in a nondysmorphic male fetus [9]

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMNIOCENTESIS; APGAR SCORE; CASE REPORT; CENTROMERE; CHROMOSOME ANALYSIS; CHROMOSOME MARKER; CHROMOSOME MOSAICISM; DOWN SYNDROME; ELECTROENCEPHALOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; HETEROZYGOSITY; HUMAN; INFANT; LETTER; MALE; MATERNAL SERUM; MENTAL DEVELOPMENT; PHYSICAL DEVELOPMENT; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCREENING TEST; SHORT TANDEM REPEAT; SPECTRAL KARYOTYPING; SUPERNUMERARY CHROMOSOME; X CHROMOSOME;

EID: 33646073729     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1416     Document Type: Letter
Times cited : (4)

References (9)
  • 2
    • 0028939755 scopus 로고
    • Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: Role of X inactivation
    • Callen DF, Eyre HJ, Dolman G, et al. 1995. Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation. J Med Genet 32: 113-116.
    • (1995) J Med Genet , vol.32 , pp. 113-116
    • Callen, D.F.1    Eyre, H.J.2    Dolman, G.3
  • 3
    • 0027453924 scopus 로고
    • Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization
    • Duncan AM, MacDonald A, Brown CJ, Wolff D, Willard HF, Sutton B. 1993. Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization. Am J Med Genet 47: 1153-1156.
    • (1993) Am J Med Genet , vol.47 , pp. 1153-1156
    • Duncan, A.M.1    MacDonald, A.2    Brown, C.J.3    Wolff, D.4    Willard, H.F.5    Sutton, B.6
  • 4
    • 0029026562 scopus 로고
    • Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis X inactivation
    • Jani MM, Torchia BS, Pai GS, Migeon BR. 1995. Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis X inactivation. Genomics 27: 182-188.
    • (1995) Genomics , vol.27 , pp. 182-188
    • Jani, M.M.1    Torchia, B.S.2    Pai, G.S.3    Migeon, B.R.4
  • 5
    • 0037329726 scopus 로고    scopus 로고
    • Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus
    • Le Caignec C, Boceno M, Joubert M, et al. 2003. Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus. Prenat Diagn 23: 143-145.
    • (2003) Prenat Diagn , vol.23 , pp. 143-145
    • Le Caignec, C.1    Boceno, M.2    Joubert, M.3
  • 6
    • 0031424518 scopus 로고    scopus 로고
    • Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: Mos47,XXY/48,XXY,+r(X)
    • Manea SR, Gershin IF, Babu A, Willner JP, Desnick RJ, Cotter PD. 1997. Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY,+r(X). Clin Genet 52: 432-435.
    • (1997) Clin Genet , vol.52 , pp. 432-435
    • Manea, S.R.1    Gershin, I.F.2    Babu, A.3    Willner, J.P.4    Desnick, R.J.5    Cotter, P.D.6
  • 7
    • 0027991877 scopus 로고
    • The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation
    • Migeon BR, Luo S, Jani M, Jeppesen P. 1994. The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation. Am J Hum Genet 55: 497-504.
    • (1994) Am J Hum Genet , vol.55 , pp. 497-504
    • Migeon, B.R.1    Luo, S.2    Jani, M.3    Jeppesen, P.4
  • 9
    • 0026709047 scopus 로고
    • A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH)
    • Rauch A, Pfeiffer RA, Trautmann U, Liehr T, Rott HD, Ulmer R. 1992. A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH). Clin Genet 42: 84-90.
    • (1992) Clin Genet , vol.42 , pp. 84-90
    • Rauch, A.1    Pfeiffer, R.A.2    Trautmann, U.3    Liehr, T.4    Rott, H.D.5    Ulmer, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.