Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles
نویسندگان
چکیده
منابع مشابه
Tetraploidy in hydatidiform moles.
STUDY QUESTION How does tetraploidy develop in hydatidiform moles (HMs), and what is the frequency of the different origins? SUMMARY ANSWER Most molar pregnancies with tetraploid cells appear to be produced by somatic endoreduplications, while a minority originate from a tetraploid zygote. The frequency of zygotic tetraploidy was estimated to be 0.7%. WHAT IS KNOWN ALREADY The parental orig...
متن کاملSex chromatin of hydatidiform moles.
The placenta is a homograft which is tolerated by the host for an unusually long time. The hydatidiform mole may be said to be even more successful in this respect for it can survive longer and penetrate further in the host even in the absence of a viable foetus. Recent observations that a large number of hydatidiform moles are chromatin positive are of much interest, but so far the reported se...
متن کاملMolar Pregnancy (Hydatidiform Moles) and Choriocarcinoma — Symptoms and Treatments
During pregnancy, it is possible for the tissue surrounding the embryo to degenerate. Such degeneration typically manifests itself in hydatidiform moles and choriocarcinoma. These tumors are difficult to diagnose and are associated with an increased level of beta hCG. Treatment involves the complete removal of the tumorous growth. The characteristics of the tumors are described in more detail b...
متن کاملKi-67 Expression in Hydatidiform Moles and Hydropic Abortions
BACKGROUND Differential diagnosis of hydatidiform moles from non-molar specimens as well as their sub-classification such as complete and partial hydatidiform moles are important for clinical management and accurate risk assessment for persistent gestational trophoblastic disease, but diagnosis based solely on histomorphology suffers from poor interobserver and intraobserver reproducibility. ...
متن کاملMolecular and Immunohistochemical Characteristics of Complete Hydatidiform Moles
Molar pregnancy is a gestational trophoblastic disease that belongs to the category of precancerous lesions. On the other end of the spectrum are gestational trophoblastic neoplasms such as invasive mole, choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor, which are considered malignant tumors. Based on defined histopathological criteria, molar pregnancy is ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2018
ISSN: 1018-4813,1476-5438
DOI: 10.1038/s41431-018-0141-3