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

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

Abstract

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.

Keywords

• Triploidy, Abortion, Chromosomal anomaly

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