Dergiler / Turkish Journal of Medical Sciences / 2005 / Cilt: 35 - Sayı: 3

Prenatal Diagnosis of a Trisomy 13 Case Associated with Holoprosencephaly by Ultrasonography and Quantitative Fluorescent PCR

Sayfa
179–183
Yayın Tarihi
2022-11-05
DOI
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Key Words: Aneuploidies, holoprosencephaly, QF-PCR, prenatal diagnosis, trisomy 13, ultrasonography

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Key Words: Aneuploidies, holoprosencephaly, QF-PCR, prenatal diagnosis, trisomy 13, ultrasonography
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Temel Bulgular & Veri:Key Words: Aneuploidies, holoprosencephaly, QF-PCR, prenatal diagnosis, trisomy 13, ultrasonography
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Sonuç & Katkı:Key Words: Aneuploidies, holoprosencephaly, QF-PCR, prenatal diagnosis, trisomy 13, ultrasonography
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Turk J Med Sci 2005 · 35(3): 179-183. Full text: pdf Other articles published in the same issue: Turk J Med Sci · vol.35

Özet

Key Words: Aneuploidies, holoprosencephaly, QF-PCR, prenatal diagnosis, trisomy 13, ultrasonography

Abstract

Key Words: Aneuploidies, holoprosencephaly, QF-PCR, prenatal diagnosis, trisomy 13, ultrasonography

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Bu Makaleye Atıf Yap

BİR, F., YILDIRIM, B., SEMERCİ, C. N., TUFAN, Ş. N. L., TUFAN, A. Ç., KALELİ, B., DÜZCAN, F., BAĞCI, H. (2022). Prenatal Diagnosis of a Trisomy 13 Case Associated with Holoprosencephaly by Ultrasonography and Quantitative Fluorescent PCR. Turkish Journal of Medical Sciences, Cilt: 35 - Sayı: 3, 179–183. https://ajindex.com/articles/611981

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Kaynakça (14)

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  2. Jones ICL. Smith’s recognizable patterns of human malformation. Saunders. Philadelphia-London 1997, pp: 18-19
  3. Tongsong T, Sirichotiyakul S, Wanapirak C et al. Sonographic features of trisomy 13 at midpregnancy. Int J Gynaecol Obstet 76: 143-148, 2002
  4. Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: epidemiologic and clinical characteristics of a California population. Am J Med Genet 64: 465–472, 1996
  5. Oslen CL, Hughes JP, Youngblood LG et al. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984–1989. Am J Med Genet 73: 217–226, 1997
  6. Phadke SR, Thakur S. Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report. Prenat Diagn 22: 1240-1241, 2002
  7. Schmidt W, Jenderny J, Hecher K et al. Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Mol Hum Reprod 6: 855-860, 2000
  8. Hulten MA, Dhanjal S, Pertl B. Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. Reproduction 126: 279-297, 2003
  9. Cirigliano V, Voglino G, Canadas MP et al. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples. Mol Hum Reprod 10: 839-846, 2004
  10. Mann K, Donaghue C, Fox SP et al. Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet 12: 907-15, 2004
  11. Ogilvie CM, Donaghue C, Fox SP et al. Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR). J Histochem Cytochem 3: 285-8, 2005
  12. Nicolini U, Lalatta F, Natacci F et al. The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration. Hum Reprod Update 10: 541-8, 2004
  13. Leung WC, Waters JJ, Chitty L. Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocenteses. Prenat Diagn. 24: 790-5, 2004
  14. Quaife R, Wong LF, Tan SY et al. QF-PCR-based prenatal detection of aneuploidy in a southeast Asian population. Prenat Diagn 24: 407-13, 2004.