Origin and outcome of pregnancies affected by androgenetic/biparental chimerism

Robinson, Wendy P.; Lauzon, Julie; Innes, A. Micheil; Lim, Kenneth; Arsovska, S.; McFadden, Deborah E.

doi:10.1093/humrep/del462

Cited by 74 publications

(98 citation statements)

References 47 publications

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“…Indications of mosaicism/ chimerism with an androgenetic and a biparental cell population have been observed both in HMs, [12][13][14][15][16], present study in placentas displaying PMD, 18,[23][24][25] and in fetuses/children with malformations or growth abnormalities mimicking (part of) the Beckwith-Wiedemann phenotype. [25][26][27][28][29][30] The phenotype seems to correlate with the localization of the androgenetic cells.…”

Section: Mosaicism: Hm Versus Pmd Versus Fetal Malformationsupporting

confidence: 50%

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Mosaics and moles

Sunde¹,

Niemann²,

Hansen³

et al. 2011

Eur J Hum Genet

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Section: Mosaicism: Hm Versus Pmd Versus Fetal Malformationsupporting

confidence: 50%

“…In a number of cases, such two cell populations have been demonstrated, 18,23,24,31 whereas we previously found identical biparental contributions to the genome of a placenta with PMD, and to the genome of the healthy fetus. 32 …”

Section: Mosaicism Versus Genuine Diploid Biparental Conceptusesmentioning

confidence: 53%

Mosaics and moles

Sunde¹,

Niemann²,

Hansen³

et al. 2011

Eur J Hum Genet

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“…A variety of theoretical models have been invoked to explain the origin of parthenogenetic/gynogenetic and androgenetic chimeras (Strain et al 1995;Giltay et al 1998;Robinson et al 2007), which however remain largely unvalidated because they rely on genome analyses of live-born individuals. As a consequence, the cells containing the signature genomes that may illuminate the mechanism(s) of chimerism may be eradicated early during prenatal development by selection.…”

mentioning

confidence: 99%

Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy

et al. 2016

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Dramatic genome dynamics, such as chromosome instability, contribute to the remarkable genomic heterogeneity among the blastomeres comprising a single embryo during human preimplantation development. This heterogeneity, when compatible with life, manifests as constitutional mosaicism, chimerism, and mixoploidy in live-born individuals. Chimerism and mixoploidy are defined by the presence of cell lineages with different parental genomes or different ploidy states in a single individual, respectively. Our knowledge of their mechanistic origin results from indirect observations, often when the cell lineages have been subject to rigorous selective pressure during development. Here, we applied haplarithmisis to infer the haplotypes and the copy number of parental genomes in 116 single blastomeres comprising entire preimplantation bovine embryos (n = 23) following in vitro fertilization. We not only demonstrate that chromosome instability is conserved between bovine and human cleavage embryos, but we also discovered that zygotes can spontaneously segregate entire parental genomes into different cell lineages during the first post-zygotic cleavage division. Parental genome segregation was not exclusively triggered by abnormal fertilizations leading to triploid zygotes, but also normally fertilized zygotes can spontaneously segregate entire parental genomes into different cell lineages during cleavage of the zygote. We coin the term “heterogoneic division” to indicate the events leading to noncanonical zygotic cytokinesis, segregating the parental genomes into distinct cell lineages. Persistence of those cell lines during development is a likely cause of chimerism and mixoploidy in mammals.

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“…The histologic features of this case were consistent with placental mesenchymal dysplasia, which is known to result in some cases from androgenetic/ biparental mosaicism. [30][31][32] p57 immunohistochemistry showed staining of the trophoblastic cells but only scattered staining of cells in the villous stroma ( Figure 5, C). Fluorescence in situ hybridization with X and Y centromere probes (AneuVysion) showed an XY pattern in trophoblastic cells and an XX pattern in most cells of the villous core ( Figure 5, D), and flow cytometry on multiple sections of the villi showed a purely diploid population of cells.…”

Section: Dna Template To Diminish the Effect Of Pcr Inhibitorsmentioning

confidence: 98%

Diagnostic Utility of Microsatellite Genotyping for Molar Pregnancy Testing

Furtado

Paxton

Jama

et al. 2013

Archives of Pathology &Amp; Laboratory Medicine

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Context.—Molecular genotyping by analysis of DNA microsatellites, also known as short tandem repeats (STRs), is an established method for diagnosing and classifying hydatidiform mole. Distinction of both complete hydatidiform mole and partial hydatidiform mole from nonmolar specimens is relevant for clinical management owing to differences in risk for persistent gestational trophoblastic disease. Objective.—To determine the technical performance of microsatellite genotyping by using a commercially available multiplex assay, and to describe the application of additional methods to confirm other genetic abnormalities detected by the genotyping assay. Design.—Microsatellite genotyping data on 102 cases referred for molar pregnancy testing are presented. A separate panel of mini STR markers, flow cytometry, fluorescence in situ hybridization, and p57 immunohistochemistry were used to characterize cases with other incidental genetic abnormalities. Results.—Forty-eight cases were classified as hydatidiform mole (31, complete hydatidiform mole; 17, partial hydatidiform mole). Genotyping also revealed 11 cases of suspected trisomy and 1 case of androgenetic/biparental mosaicism. Trisomy for selected chromosomes (13, 16, 18, and 21) was confirmed in all cases by using a panel of mini STR markers. Conclusions.—This series illustrates the utility of microsatellite genotyping as a stand-alone method for accurate classification of hydatidiform mole. Other genetic abnormalities may be detected by genotyping; confirmation of the suspected abnormality requires additional testing.

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Origin and outcome of pregnancies affected by androgenetic/biparental chimerism

Cited by 74 publications

References 47 publications

Mosaics and moles

Mosaics and moles

Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy

Diagnostic Utility of Microsatellite Genotyping for Molar Pregnancy Testing

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