Recurrent triploidy of maternal origin

@article{Brancati2003RecurrentTO,
  title={Recurrent triploidy of maternal origin},
  author={Francesco Brancati and Rita Mingarelli and Bruno Dallapiccola},
  journal={European Journal of Human Genetics},
  year={2003},
  volume={11},
  pages={972-974}
}
Triploidy is the most frequent chromosome aberration in first trimester spontaneous abortions. [] Key Method Here, we report on a woman who underwent three consecutive triploid pregnancies, in two of which maternal origin of triploidy was proved by molecular analysis.
Triploid pregnancy–Clinical implications
TLDR
Important clinical aspects of triploid pregnancies are presented and unresolved issues demanding further studies are indicated.
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy
TLDR
A family is reported in which a damaging variant in cyclin B3 is associated with the failure of oocyte meiosis II and recurrent fetus triploidy, implicating a rationale for CCNB3 testing in RPL.
The case of triploidy of fetus (69,XXX) confirmed by amniocentesis after the non-invasive screening test with increased biochemical risk on chromosomal anomalies in the first three-month period
TLDR
A female patient aged 25 years with the first pregnancy, no previous miscarriages, no encumbered personal and family medical history, was admitted to a hospital in 17th gestational week due to lower fetal viability, placental edema, and multilocular tumefaction originating from the ovaries and elevated Ca125.
Recurrent early pregnancy loss due to trisomy 21.
Numerical chromosomal aberration is the most common cause of early pregnancy loss. Incidence of this aberration is reported to be between 30 and 80% 1,2. While studies lay emphasis on chromosomal
Hydatidiform mole and triploidy: the role of genomic imprinting in placental development.
TLDR
This review focuses on the genetics of a disorder caused by a global defect in genomic imprinting, the hydatidiform mole, and suggests that the recent identification and molecular studies in biparental complete moles may yield more insight into the regulation of imprinting during gametogenesis.
Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants.
TLDR
Based on the hypothesis that an inherited autosomal-dominant maternal predisposition would explain the phenotype, whole-exome sequencing of the proband and her parents was undertaken to identify potential candidate variants, and several variants in genes coding proteins playing a role in oocyte maturation and early embryonic development were identified.
A COMPREHENSIVE EXAMINATION OF HUMAN TRIPLOIDY AND DIPLOID/TRIPLOID MIXOPLOIDY
TLDR
The goals of this paper include summarizing the current body of knowledge on triploidy and diploid/triploid mixoploidy, examining the remaining questions, and a side-by-side comparison of the two syndromes.
Prenatal diagnosis of triploidy in second trimester of pregnancy: a series of 4 cases over an eleven-year period / Diagnosticul prenatal al triploidiei în trimestrul al II-lea de sarcină: o serie de patru cazuri depistate în unsprezece ani
TLDR
It is demonstrated that triploidy may be discovered in the 2nd trimester of pregnancy and has a heterogeneous aspect at ultrasound scan, which can generate diagnostic difficulties, therefore, the detection by ultrasound scan of complex foetal morphological abnormalities should be an important reason for amniocentesis to search chromosomal anomalies.
A 92,XXXY Miscarriage Consecutive to a Digynic Triploid Pregnancy
The patient was referred for prenatal diagnosis due to the sonographic finding of a polymalformed male fetus, and an amniocentesis was performed before termination of pregnancy. The pathological
Maternal germline factors associated with aneuploid pregnancy loss: a systematic review.
TLDR
The candidate germline factors identified may be incorporated in a screening panel for women suffering miscarriage of aneuploidy aetiology to facilitate counselling for subsequent pregnancies and establish areas requiring further research.
...
...

References

SHOWING 1-10 OF 10 REFERENCES
Recurrent triploidy of maternal origin
TLDR
Triploid preimplantation embryos following in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) in a woman with two previously‐identified triploid conceptuses which spontaneously underwent fetal demise at 10 and 23 weeks' gestation are reported.
Parental origin of the extra haploid chromosome set in triploidies diagnosed prenatally.
TLDR
This is the first systematic evaluation of the parental origin of chromosome sets in fetuses who survived until a cytogenetic diagnosis was established and documented a predominance of maternal origin of the extra haploid set mainly due to longer survival time for digynic triploidies.
Parental origin and mechanisms of formation of triploidy: a study of 25 cases
TLDR
It is now thought that, to some extent, a detection bias in favour of cases with associated partial hydatidiform moles may account for the high incidences of diandric cases reported in some studies.
Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole
TLDR
One hundred and six triploids were ascertained during a study of 1500 consecutive spontaneous abortions by comparing parental and foetal cytogenetic heteromorphisms and a histopathological examination of each triploid was done in a subsequent blind study.
Two different phenotypes of fetuses with chromosomal triploidy: correlation with parental origin of the extra haploid set.
TLDR
Although these findings suggest that in human triploids the parental origin of the extra haploid set is important in determination of both fetal and placental phenotype it is not clear to what degree placental development and function affect the resultant fetal phenotype.
Genetic mapping of a maternal locus responsible for familial hydatidiform moles.
TLDR
It is demonstrated that a defective maternal gene is responsible for recurrent hydatidiform mole, which resides on chromosome 19q13.4 and adds new insights into the molecular genetics of early embryogenesis and may be relevant to the large number of patients with sporadic HM.
Mole maker phenotype: possible narrowing of the candidate region
TLDR
Molecular data is provided on an additional family confirming that recurrent familial hydatidiform moles are diploid, biparental and arise from independent conceptions.
Catalogue of Unbalanced Chromosome Aberrations in Man
TLDR
The catalogue should prove useful for any clinician treating patients with autosomal chromosome aberrations as well as for physicians and biologists working in cytogenic laboratories and human genetic institutes.
Preferential PCR amplification of alleles: mechanisms and solutions.
TLDR
Experiments in which the variable number tandem repeat (VNTR) marker D17S5 (YNZ22) was amplified under various conditions suggest that the smaller allelic products are amplified preferentially when Taq polymerase is limiting.
Three consecutive triploidy pregnancies in a woman: genetic predisposition?
TLDR
A recurrent triploidy of maternal origin is read with interest by Brancati et al1 and a similar family of similar family is reported in detail.