메뉴 건너뛰기




Volumn 24, Issue 4, 2009, Pages 340-344

Intermediate interstitial deletion of chromosome 7q detected by first-trimester Down's syndrome screening

Author keywords

Chromosome 7q; Down's syndrome screening; Interstitial deletion; Pregnancy associated plasma protein A; Prenatal diagnosis

Indexed keywords

PREGNANCY ASSOCIATED PLASMA PROTEIN A;

EID: 54749087579     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000161115     Document Type: Article
Times cited : (6)

References (25)
  • 1
    • 0033549839 scopus 로고    scopus 로고
    • Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters
    • Wald NJ, Watt HC, Hackshaw AK: Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters. N Engl J Med 1999;341:461-467.
    • (1999) N Engl J Med , vol.341 , pp. 461-467
    • Wald, N.J.1    Watt, H.C.2    Hackshaw, A.K.3
  • 2
    • 0032999749 scopus 로고    scopus 로고
    • A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A
    • Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH: A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 1999;13:231-237.
    • (1999) Ultrasound Obstet Gynecol , vol.13 , pp. 231-237
    • Spencer, K.1    Souter, V.2    Tul, N.3    Snijders, R.4    Nicolaides, K.H.5
  • 3
    • 0036775261 scopus 로고    scopus 로고
    • Advances in prenatal screening for Down syndrome. II. First-trimester testing, integrated testing, and future directions
    • Benn PA: Advances in prenatal screening for Down syndrome. II. First-trimester testing, integrated testing, and future directions. Clin Chim Acta 2002;324:1-11.
    • (2002) Clin Chim Acta , vol.324 , pp. 1-11
    • Benn, P.A.1
  • 4
    • 0037333249 scopus 로고    scopus 로고
    • Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: A review of three years prospective experience
    • Spencer K, Spencer CE, Power M, Dawson C, Nicolaides KH: Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience. Br J Obstet Gynaecol 2003;110:281-286.
    • (2003) Br J Obstet Gynaecol , vol.110 , pp. 281-286
    • Spencer, K.1    Spencer, C.E.2    Power, M.3    Dawson, C.4    Nicolaides, K.H.5
  • 5
    • 10344234723 scopus 로고    scopus 로고
    • Pregnancy outcomes in unselected singleton pregnant women with an increased risk of first-trimester Down's syndrome
    • Liu SS, Lee FK, Lee JL, Tsai MS, Cheong ML, She BQ: Pregnancy outcomes in unselected singleton pregnant women with an increased risk of first-trimester Down's syndrome. Acta Obstet Gynecol Scand 2004;83:1130-1134.
    • (2004) Acta Obstet Gynecol Scand , vol.83 , pp. 1130-1134
    • Liu, S.S.1    Lee, F.K.2    Lee, J.L.3    Tsai, M.S.4    Cheong, M.L.5    She, B.Q.6
  • 7
    • 0020465409 scopus 로고
    • Interstitial deletion of chromosome 7: A case report and review of the literature
    • Gibson J, Ellis PM, Forsyth JS: Interstitial deletion of chromosome 7: a case report and review of the literature. Clin Genet 1982;22:256-265.
    • (1982) Clin Genet , vol.22 , pp. 256-265
    • Gibson, J.1    Ellis, P.M.2    Forsyth, J.S.3
  • 10
    • 0034979428 scopus 로고    scopus 로고
    • Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3
    • Haberlandt E, Loffler J, Hirst-Stadlmann A, Stockl B, Judmaier W, Fischer H, Heinz-Erian P, Muller T, Utermann G, Smith RJ, Janecke AR: Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3. J Med Genet 2001;38:405-409.
    • (2001) J Med Genet , vol.38 , pp. 405-409
    • Haberlandt, E.1    Loffler, J.2    Hirst-Stadlmann, A.3    Stockl, B.4    Judmaier, W.5    Fischer, H.6    Heinz-Erian, P.7    Muller, T.8    Utermann, G.9    Smith, R.J.10    Janecke, A.R.11
  • 12
    • 0033808346 scopus 로고    scopus 로고
    • Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion
    • Montgomery TL, Wyllie J, Oley C: Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion. Clin Dysmorphol 2000;9:235-239.
    • (2000) Clin Dysmorphol , vol.9 , pp. 235-239
    • Montgomery, T.L.1    Wyllie, J.2    Oley, C.3
  • 13
    • 0025300328 scopus 로고
    • Proximal interstitial deletion of 7q: A case report and review of the literature
    • Zackowski JL, Raffel LJ, Blank CA, Schwarz S: Proximal interstitial deletion of 7q: A case report and review of the literature. Am J Med Genet 1990;36:328-332.
    • (1990) Am J Med Genet , vol.36 , pp. 328-332
    • Zackowski, J.L.1    Raffel, L.J.2    Blank, C.A.3    Schwarz, S.4
  • 15
    • 0003799586 scopus 로고    scopus 로고
    • Diagnosis of fetal abnormalities: The 18-23 week scan
    • Nicolaides KH ed, London, Parthenon Publishing
    • Pilu G, Nicolaides KH: Diagnosis of fetal abnormalities: The 18-23 week scan; in Nicolaides KH (ed): Diploma in Fetal Medicine Series. London, Parthenon Publishing, 1999, pp 103.
    • (1999) Diploma in Fetal Medicine Series , pp. 103
    • Pilu, G.1    Nicolaides, K.H.2
  • 17
    • 0032981399 scopus 로고    scopus 로고
    • The insulin-like growth factor (IGF)-dependent IGF binding protein-4 protease secreted by human fibroblasts is pregnancy-associated plasma protein-A
    • Lawrence JB, Oxvig C, Overgaard MT, Sottrup-Jensen L, Gleich GJ, Hays LG, Yates JR: The insulin-like growth factor (IGF)-dependent IGF binding protein-4 protease secreted by human fibroblasts is pregnancy-associated plasma protein-A. Proc Natl Acad Sci 1999;96:3149-3153.
    • (1999) Proc Natl Acad Sci , vol.96 , pp. 3149-3153
    • Lawrence, J.B.1    Oxvig, C.2    Overgaard, M.T.3    Sottrup-Jensen, L.4    Gleich, G.J.5    Hays, L.G.6    Yates, J.R.7
  • 18
    • 22144496491 scopus 로고    scopus 로고
    • Cheong ML, She BQ, Chen SC, Lee FK, Tsai MS: Can first-trimester maternal serum level of pregnancy-associated plasma protein-A predict subsequent fetal growth restriction? Taiwanese J Obstet Gynecol 2005;44:148-152.
    • Cheong ML, She BQ, Chen SC, Lee FK, Tsai MS: Can first-trimester maternal serum level of pregnancy-associated plasma protein-A predict subsequent fetal growth restriction? Taiwanese J Obstet Gynecol 2005;44:148-152.
  • 20
    • 0032737453 scopus 로고    scopus 로고
    • The influence of smoking on maternal serum PAPP-A and free beta hCG levels in the first trimester of pregnancy
    • Spencer K: The influence of smoking on maternal serum PAPP-A and free beta hCG levels in the first trimester of pregnancy. Prenat Diagn 1999;19:1065-1066.
    • (1999) Prenat Diagn , vol.19 , pp. 1065-1066
    • Spencer, K.1
  • 21
    • 0036733227 scopus 로고    scopus 로고
    • Decreased first trimester PAPP-A is a predictor of adverse pregnancy outcome
    • Yaron Y, Heifetz S, Ochshorn Y, Lehavi O, Orr-Urtreger A: Decreased first trimester PAPP-A is a predictor of adverse pregnancy outcome. Prenat Diagn 2002;22:778-782.
    • (2002) Prenat Diagn , vol.22 , pp. 778-782
    • Yaron, Y.1    Heifetz, S.2    Ochshorn, Y.3    Lehavi, O.4    Orr-Urtreger, A.5
  • 22
    • 0036281056 scopus 로고    scopus 로고
    • Early pregnancy levels of pregnancy-associated plasma protein A and the risk of intrauterine growth restriction, premature birth, preeclampsia, and stillbirth
    • Smith GC, Stenhouse EJ, Crossley JA, Aitken DA, Cameron AD, Connor JM: Early pregnancy levels of pregnancy-associated plasma protein A and the risk of intrauterine growth restriction, premature birth, preeclampsia, and stillbirth. J Clin Endocrinol Metab 2002;87:1762-1767.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 1762-1767
    • Smith, G.C.1    Stenhouse, E.J.2    Crossley, J.A.3    Aitken, D.A.4    Cameron, A.D.5    Connor, J.M.6
  • 23
    • 1142310569 scopus 로고    scopus 로고
    • A comparison between maternal serum free beta-human chorionic gonadotrophin and pregnancy-associated plasma protein A levels in first-trimester twin and singleton pregnancies
    • Mashiach R, Orr-Urtreger A, Yaron Y: A comparison between maternal serum free beta-human chorionic gonadotrophin and pregnancy-associated plasma protein A levels in first-trimester twin and singleton pregnancies. Fetal Diagn Ther 2004;19:174-177.
    • (2004) Fetal Diagn Ther , vol.19 , pp. 174-177
    • Mashiach, R.1    Orr-Urtreger, A.2    Yaron, Y.3
  • 24
    • 0041426302 scopus 로고    scopus 로고
    • First-trimester screening for Down syndrome in singleton pregnancies achieved by intrauterine insemination
    • Lai TH, Chen SC, Tsai MS, Lee FK, Wei CF: First-trimester screening for Down syndrome in singleton pregnancies achieved by intrauterine insemination. J Assist Reprod Gen 2003;20:327-331.
    • (2003) J Assist Reprod Gen , vol.20 , pp. 327-331
    • Lai, T.H.1    Chen, S.C.2    Tsai, M.S.3    Lee, F.K.4    Wei, C.F.5
  • 25
    • 0347478051 scopus 로고    scopus 로고
    • Predicting complications of pregnancy with first-trimester maternal serum free β-hCG, PAPP-A and inhibin-A
    • Tul N, Pušenjak S, Osredkar J, Spencer K, Novak-Antolič Ž: Predicting complications of pregnancy with first-trimester maternal serum free β-hCG, PAPP-A and inhibin-A. Prenat Diagn 2003;23:990-996.
    • (2003) Prenat Diagn , vol.23 , pp. 990-996
    • Tul, N.1    Pušenjak, S.2    Osredkar, J.3    Spencer, K.4    Novak-Antolič, Z.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.