Recurrent hydatidiform moles (RHM) are described as the being of at least two molar pregnancies in the same patient. It is very rare. NLPR7 mutations are found high rate in patients with RHM. KHDC3L is the second responsible gene for RHM. In this paper, we present an interesting case of a familial RHM. Here, we have discussed the genetic counseling to be given to a patient who had been diagnosed as hydatidiform mole in her two previous pregnancies and whose sister had a history of four consecutive molar pregnancies. Because rate of NLPR7 mutation is high in individuals with recurrent molar pregnancy, patients should be recommended to have NLRP7 gene sequence analysis in the first place. If no mutation is detected in this gene, KHDC3l gene sequence analysis should be carried out
Birincil Dil | İngilizce |
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Bölüm | Vaka Sunumu |
Yazarlar | |
Yayımlanma Tarihi | 1 Eylül 2014 |
Yayımlandığı Sayı | Yıl 2014 Cilt: 1 Sayı: 3 |