Onsekiz Haftalık Spontan Olarak Sonlanan ve QF-PCR ile Saptanan Tri̇ploi̇dik Fetus: Olgu Sunumu

Yıl 2013, Cilt: 1 Sayı: 1, 31 - 34, 12.07.2016

Sinem Yalçıntepe Meryem Gencer Ahmet Uludağ Ayşe Nur Çakır Güngör Tuncer Kumcular Emine Coşar Fatma Sılan Öztürk Özdemir

Öz

Triploidi 69 kromozomlu karyotiple tarif edilen spontan abortuslarda en sık görülen, diploid kromozom sayısına ek olarak haploid sayıda kromozom artışı gösteren kromozomal anomalidir. Tüm konsepsiyonların yaklaşık %3’ünü oluşturduğu bildirilmektedir. Triploidi olgularının çoğu spontan abortusla sonuçlanmakta, canlı doğanlar da postnatal dönemde erkenden kaybedilmektedir. Bu raporda spontan abortusla sonlanan ve düşük materyalinden yapılan QF-PCR analizi sonrası tanı konan 69, XXY karyotipli bir olguyu sunmaktayız.

Anahtar Kelimeler

Triploidi, Abortus, Kromozomal anomali

Triploidy in a spontaneous aborted fetus detected by QF-PCR analysis at 18 weeks’ gestation: A case report

Öz

Triploidy is the chromosomal anomaly which is the most frequent in spontaneous abortions and there is an increase in the number of chromosomes in haploid number with addition to diploid number chromosomes. It has been reported that approximately 3% of all conceptions are triploidy pregnancies. Most cases of triploidy are aborted spontaneously, live births in the early postnatal period dies very young. We report on a case with 69,XXY karyotype detected with QF-PCR method after spontaneous abortion.

Anahtar Kelimeler

Triploidy, Abortion, Chromosomal anomaly

Kaynakça

• 1. Snijders RJ, Sherrod C, Gosden CM, Nicolaides KH. Fetal growth retardation: associated malformations and chromosomal abnormalities. Am J Obstet Gynecol 1993;168(2):547-555.
• 2. Jauniaux E, Brown R, Snijders RJ, Noble P, Nicolaides KH. Early prenatal diagnosis of triploidy. Am J Obstet Gynecol 1997;176(3):550-554.
• 3. McFadden DE, Robinson WP. Phenotype of triploid embryos. J Med Genet 2006;43(7):609-612.
• 4. McFadden DE, Jiang R, Langlois S, Robinson WP. Dispermy- -origin of diandric triploidy: brief communication. Hum Reprod 2002;17(12):3037-3038.
• 5. Uchida IA, Freeman VC. Triploidy and chromosomes. Am J Obstet Gynecol 1985;151(1):65-69.
• 6. Daniel A, Wu Z, Bennetts B, Slater H, Osborn R, Jackson J, Pupko V, Nelson J, Watson G, Cooke-Yarborough C, Loo C. Karyotype, phenotype and parental origin in 19 cases of triploidy Prenat Diagn 2001;21(12):1034-1048.
• 7. Donaghue C, Mann K, Docherty Z, Ogilvie CM. Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenat Diagn 2005;25(1):65-72.
• 8. McFadden DE, Kwong LC, Yam IY, Langlois S. Parental origin of triploidy in human fetuses: evidence for genomic imprinting. Hum Genet 1993;92(5):465-469.
• 9. Baumer A, Balmer D, Binkert F, Schinzel A. Parental origin and mechanisms of formation of triploidy: a study of 25 cases. Eur J Hum Genet 2000;8(12):911-917.
• 10. Zaragoza MV, Surti U, Redline RW, Millie E, Chakravarti A, Hassold TJ. Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole. Am J Hum Genet 2000;66(6):1807- 1820.
• 11. Yaron Y, Ochshorn Y, Tsabari S, Shira AB. First-trimester nuchal translucency and maternal serum free beta-hCG and PAPP-A can detect triploidy and determine the parental origin. Prenat Diagn 2004;24(6):445-450.
• 12. Chang SD, Chu DC, Chen DP, Lin PY, Soong YK. Phenotype II triploid pregnancy and study of the parental origin of the extra set of chromosomes with fluorescence microsatellite analysis: case report. Chang Gung Med J 2001;24(4):258-62.
• 13. Triploidy By Kathleen A. Fergus MS, CGCThomson Gale, Gale. Gale Encyclopedia of Genetic Disorders Part II, 2005 (http://www.healthline.com/galecontent/triploidy)