Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles
نویسندگان
چکیده
منابع مشابه
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.
Hydatidiform mole is an aberrant pregnancy with abnormal embryonic development and hydropic placental villi. Common moles are sporadic, not recurrent and affect one in every 1500 pregnancies in Western societies. Approximately, half of common moles are complete and mostly diploid androgenetic, whereas the remaining are partial and mostly triploid diandric. NLRP7 has been found to be responsible...
متن کاملTetraploidy 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 کاملThe maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles.
Hydatidiform mole (HM) is an abnormal gestation characterized by trophoblast hyperplasia and overgrowth of placental villi. The genetic basis in the vast majority of cases is an excess of paternal to maternal genomes, suggesting that global misexpression of imprinted genes is the common molecular mechanism underlying the genesis of this condition. Although most complete HM are androgenetic in o...
متن کاملNLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.
Women with mutation in both alleles of the NLRP7 or C6orf221/KHDC3L genes are predisposed to diploid biparental moles, but it has also been suggested that mutation in these genes can predispose to diploid androgenetic or triploid moles and to other kinds of reproductive wastage. We have investigated the association between molar pregnancy and recurrent miscarriages regarding changes in the NLRP...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2018
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2018.10.007