메뉴 건너뛰기




Volumn 29, Issue 6, 2003, Pages 427-430

Prenatal diagnosis for placental steroid salfatase deficiency with fluorescence in situ hybridization: A case of X-linked ichthyosis

Author keywords

Fluorescence in situ hybridization (FISH); Placental steroid sulfatase (STS); Unconjugated estriol (uE3); X linked ichythyosis (XLI)

Indexed keywords

ALPHA FETOPROTEIN; CHORIONIC GONADOTROPIN; ESTRIOL; INHIBIN; STERYL SULFATASE;

EID: 0842303612     PISSN: 13418076     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1341-8076.2003.00142.x     Document Type: Article
Times cited : (13)

References (34)
  • 2
    • 0034522370 scopus 로고    scopus 로고
    • Triple marker screening for trisomy 21, trisomy 18 and open neural tube defects in singleton pregnancies of native Japanese pregnant women
    • Onda T, Tanaka T, Yoshida K et al. Triple marker screening for trisomy 21, trisomy 18 and open neural tube defects in singleton pregnancies of native Japanese pregnant women. J Obstet Gynaecol Res 2000; 26: 441-447.
    • (2000) J Obstet Gynaecol Res , vol.26 , pp. 441-447
    • Onda, T.1    Tanaka, T.2    Yoshida, K.3
  • 4
    • 0034123362 scopus 로고    scopus 로고
    • Dimeric inhibin A as a fourth marker of Down's syndrome maternal serum screening in native Japanese women
    • Yoshida K, Kuwabara Y, Tanaka T et al. Dimeric inhibin A as a fourth marker of Down's syndrome maternal serum screening in native Japanese women. J Obstet Gynaecol Res 2000; 26: 171-174.
    • (2000) J Obstet Gynaecol Res , vol.26 , pp. 171-174
    • Yoshida, K.1    Kuwabara, Y.2    Tanaka, T.3
  • 5
    • 0027213404 scopus 로고
    • Elevated maternal serum alpha-fetoprotein, very low unconjugated oestriol, and very low human chorionic gonadotropin associated with recent fetal death
    • Walters CP, McKinnon WC. Elevated maternal serum alpha-fetoprotein, very low unconjugated oestriol, and very low human chorionic gonadotropin associated with recent fetal death. Prenat Diagn 1993; 13: 423-424.
    • (1993) Prenat Diagn , vol.13 , pp. 423-424
    • Walters, C.P.1    McKinnon, W.C.2
  • 6
    • 0027462690 scopus 로고
    • Low maternal serum oestriol and chorionic gonadotropin in the prediction of adverse pregnancy outcome
    • Mason G, Lindow S, Ramsden C, Cuckle H, Holding S. Low maternal serum oestriol and chorionic gonadotropin in the prediction of adverse pregnancy outcome. Prenat Diagn 1993; 13: 223-225.
    • (1993) Prenat Diagn , vol.13 , pp. 223-225
    • Mason, G.1    Lindow, S.2    Ramsden, C.3    Cuckle, H.4    Holding, S.5
  • 7
    • 84919585371 scopus 로고
    • X-linked ichthyosis due to steroid-sulphatase deficiency
    • Webster D, France JT, Shapiro LJ, Weiss R. X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet 1978; 1: 70-72.
    • (1978) Lancet , vol.1 , pp. 70-72
    • Webster, D.1    France, J.T.2    Shapiro, L.J.3    Weiss, R.4
  • 8
    • 0028787522 scopus 로고
    • Pregnancy outcome for women with very low levels of maternal serum unconjugated estriol on second-trimester screening
    • Schleifer RA, Bradley LA, Richards DS, Ponting NR. Pregnancy outcome for women with very low levels of maternal serum unconjugated estriol on second-trimester screening. Am J Obstet Gynecol 1995; 173: 1152-1156.
    • (1995) Am J Obstet Gynecol , vol.173 , pp. 1152-1156
    • Schleifer, R.A.1    Bradley, L.A.2    Richards, D.S.3    Ponting, N.R.4
  • 9
    • 0028206613 scopus 로고
    • Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome
    • Bartels I, Caesar J, Sancken U. Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome. Prenat Diagn 1994; 14: 227-229.
    • (1994) Prenat Diagn , vol.14 , pp. 227-229
    • Bartels, I.1    Caesar, J.2    Sancken, U.3
  • 10
    • 0020355845 scopus 로고
    • Review: Placental sulphatase deficiency
    • Taylor NF. Review: Placental sulphatase deficiency. J Inherit Metab Dis 1982; 5: 164-176.
    • (1982) J Inherit Metab Dis , vol.5 , pp. 164-176
    • Taylor, N.F.1
  • 11
    • 0018903853 scopus 로고
    • The causes of low oestrogen excretion in pregnancy: The development of diagnostic methods for the antenatal detection of familial congenital adrenocortical hypoplasia
    • Harkness RA, Taylor NF, Bowman PR et al. The causes of low oestrogen excretion in pregnancy: The development of diagnostic methods for the antenatal detection of familial congenital adrenocortical hypoplasia. Clin Endocrinol (Oxf) 1980; 12: 453-460.
    • (1980) Clin Endocrinol (Oxf) , vol.12 , pp. 453-460
    • Harkness, R.A.1    Taylor, N.F.2    Bowman, P.R.3
  • 12
    • 84965266470 scopus 로고
    • Clinical features of autosomal and sex-linked ichthyosis in an English population
    • Wells RS, Kerr CB. Clinical features of autosomal and sex-linked ichthyosis in an English population. Br Med J 1966; 1: 947-950.
    • (1966) Br Med J , vol.1 , pp. 947-950
    • Wells, R.S.1    Kerr, C.B.2
  • 13
    • 0021266564 scopus 로고
    • Placental steroid sulfatase deficiency: Biochemical diagnosis and clinical review
    • Lykkesfeldt G, Nielsen MD, Lykkesfeldt AE. Placental steroid sulfatase deficiency: Biochemical diagnosis and clinical review. Obstet Gynecol 1984; 64: 49-54.
    • (1984) Obstet Gynecol , vol.64 , pp. 49-54
    • Lykkesfeldt, G.1    Nielsen, M.D.2    Lykkesfeldt, A.E.3
  • 14
    • 0022628192 scopus 로고
    • Ichthyosis of steroid sulphatase deficiency. Clinical study of 76 cases
    • Hoyer H, Lykkesfeldt G, Ibsen HH, Brandrup F. Ichthyosis of steroid sulphatase deficiency. Clinical study of 76 cases. Dermatologica 1986; 172: 184-189.
    • (1986) Dermatologica , vol.172 , pp. 184-189
    • Hoyer, H.1    Lykkesfeldt, G.2    Ibsen, H.H.3    Brandrup, F.4
  • 16
    • 0028897774 scopus 로고
    • Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis
    • Keren DF, Canick JA, Johnson MZ et al. Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis. Am J Clin Pathol 1995; 103: 400-403.
    • (1995) Am J Clin Pathol , vol.103 , pp. 400-403
    • Keren, D.F.1    Canick, J.A.2    Johnson, M.Z.3
  • 17
    • 0019510472 scopus 로고
    • X-linked ichthyosis
    • Shapiro LJ. X-linked ichthyosis. Int J Dermatol 1981; 20: 26-31.
    • (1981) Int J Dermatol , vol.20 , pp. 26-31
    • Shapiro, L.J.1
  • 18
    • 0020615615 scopus 로고
    • Clinical spectrum of steroid sulfatase deficiency. X-linked recessive ichthyosis birth complications and cryptorchidism
    • Traupe H, Happle R. Clinical spectrum of steroid sulfatase deficiency. X-linked recessive ichthyosis birth complications and cryptorchidism. Eur J Pediatr 1983; 140: 19-21.
    • (1983) Eur J Pediatr , vol.140 , pp. 19-21
    • Traupe, H.1    Happle, R.2
  • 19
    • 17144467555 scopus 로고
    • Further evidence for the assignment of the steroid sulfatase X-linked ichthyosis locus to the telomer of Xp
    • Muller CR, Wahlstrom J, Ropers HH. Further evidence for the assignment of the steroid sulfatase X-linked ichthyosis locus to the telomer of Xp. Hum Genet 1981; 58: 446.
    • (1981) Hum Genet , vol.58 , pp. 446
    • Muller, C.R.1    Wahlstrom, J.2    Ropers, H.H.3
  • 20
    • 0018756115 scopus 로고
    • Non-inactivation of an x-chromosome locus in man
    • Shapiro LJ, Mohandas T, Weiss R, Romeo G. Non-inactivation of an x-chromosome locus in man. Science 1979; 204: 1224-1226.
    • (1979) Science , vol.204 , pp. 1224-1226
    • Shapiro, L.J.1    Mohandas, T.2    Weiss, R.3    Romeo, G.4
  • 21
    • 0024208474 scopus 로고
    • The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: Evidence for an inversion of the Y chromosome during primate evolution
    • Yen PH, Marsh B, Allen E et al. The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: Evidence for an inversion of the Y chromosome during primate evolution. Cell 1988; 55: 1123-1135.
    • (1988) Cell , vol.55 , pp. 1123-1135
    • Yen, P.H.1    Marsh, B.2    Allen, E.3
  • 22
    • 0024802646 scopus 로고
    • Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
    • Ballabio A, Bardoni B, Carrozzo R et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 1989; 86: 10001-10005.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 10001-10005
    • Ballabio, A.1    Bardoni, B.2    Carrozzo, R.3
  • 23
    • 0024527636 scopus 로고
    • Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels
    • Ballabio A, Carrozzo R, Parenti G et al. Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics 1989; 4: 36-40.
    • (1989) Genomics , vol.4 , pp. 36-40
    • Ballabio, A.1    Carrozzo, R.2    Parenti, G.3
  • 24
    • 0009462761 scopus 로고
    • Molecular studies of deletions at the human steroid sulfatase locus
    • Shapiro LJ, Yen P, Pomerantz D et al. Molecular studies of deletions at the human steroid sulfatase locus. Proc Natl Acad Sci U S A 1989; 86: 8477-8481.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 8477-8481
    • Shapiro, L.J.1    Yen, P.2    Pomerantz, D.3
  • 25
    • 0026550483 scopus 로고
    • Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis
    • Basler E, Grompe M, Parenti G, Yates J, Ballabio A. Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. Am J Hum Genet 1992; 50: 483-491.
    • (1992) Am J Hum Genet , vol.50 , pp. 483-491
    • Basler, E.1    Grompe, M.2    Parenti, G.3    Yates, J.4    Ballabio, A.5
  • 26
    • 0030753202 scopus 로고    scopus 로고
    • Characterization of point mutations in patients with X-linked ichthyosis. Effects of the structure and function of the steroid sulfatase protein
    • Alperin ES, Shapiro LJ. Characterization of point mutations in patients with X-linked ichthyosis. Effects of the structure and function of the steroid sulfatase protein. J Biol Chem 1997; 272: 20756-20763.
    • (1997) J Biol Chem , vol.272 , pp. 20756-20763
    • Alperin, E.S.1    Shapiro, L.J.2
  • 29
    • 0025220144 scopus 로고
    • Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification
    • Ballabio A, Ranier JE, Chamberlain JS, Zollo M, Caskey CT. Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. Hum Genet 1990; 84: 571-573.
    • (1990) Hum Genet , vol.84 , pp. 571-573
    • Ballabio, A.1    Ranier, J.E.2    Chamberlain, J.S.3    Zollo, M.4    Caskey, C.T.5
  • 30
    • 0033995677 scopus 로고    scopus 로고
    • Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: Analysis by polymerase chain reaction and fluorescence in situ hybridization techniques
    • Aviram-Goldring A, Goldman B, Netanelov-Shapira I et al. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: Analysis by polymerase chain reaction and fluorescence in situ hybridization techniques. Int J Dermatol 2000; 39: 182-187.
    • (2000) Int J Dermatol , vol.39 , pp. 182-187
    • Aviram-Goldring, A.1    Goldman, B.2    Netanelov-Shapira, I.3
  • 31
    • 0036857869 scopus 로고    scopus 로고
    • Low or absent unconjugated estriol in pregnancy: An indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis
    • Kashork CD, Sutton VR, Fonda Allen JS et al. Low or absent unconjugated estriol in pregnancy: An indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis. Prenat Diagn 2002; 22: 1028-1032.
    • (2002) Prenat Diagn , vol.22 , pp. 1028-1032
    • Kashork, C.D.1    Sutton, V.R.2    Fonda Allen, J.S.3
  • 33
    • 0031878792 scopus 로고    scopus 로고
    • Ultrashort-time FISH for identification of the sex of peripheral-blood lymphocytes and pre-implantation embryos
    • Ikeda T, Fujino T, Nagata Y. Ultrashort-time FISH for identification of the sex of peripheral-blood lymphocytes and pre-implantation embryos. J Obstet Gynaecol Res 1998; 24 (3): 167-171.
    • (1998) J Obstet Gynaecol Res , vol.24 , Issue.3 , pp. 167-171
    • Ikeda, T.1    Fujino, T.2    Nagata, Y.3
  • 34
    • 0035079620 scopus 로고    scopus 로고
    • Rapid detection of chromosome aneuploidies by prenatal interphase FISH (fluorescence in situ hybridization) and its clinical utility in Japan
    • Sawa R, Hayashi Z, Tanaka T et al. Rapid detection of chromosome aneuploidies by prenatal interphase FISH (fluorescence in situ hybridization) and its clinical utility in Japan. J Obstet Gynaecol Res 2001; 27: 41-47.
    • (2001) J Obstet Gynaecol Res , vol.27 , pp. 41-47
    • Sawa, R.1    Hayashi, Z.2    Tanaka, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.