Diploid/triploid mosaicism: A rare event or an under-diagnosed syndrome?

Boonen, Susanne E.; Hoffmann, Anne Lisbeth; Donnai, Dian; Tümer, Zeynep; Ravn, Kirstine

doi:10.1016/j.ejmg.2011.01.002

Cited by 17 publications

(21 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although non-mosaic triploidy is almost always incompatible with life, over 30 patients with diploid/triploid mosaicism have been described in the literature [Boonen et al , 2011; Fryns et al , 1980; Oktem et al , 2007; Rittinger et al , 2008; van de Laar et al , 2002]. In many cases, cytogenetic analysis of peripheral blood leukocytes is not sufficient to detect a triploid cell line, and skin fibroblast studies are needed for diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…Numerical chromosome abnormalities result from errors in meiosis and are detected in approximately 5% of clinically recognized pregnancies and 0.3% of live births [Hassold et al , 1996; Hassold and Hunt 2001; Nagaoka et al , 2012]. Mosaicism involving a euploid cell line provides a viable chromosome complement and can mitigate the severity of the phenotype [Boonen et al , 2011; Hook and Warburton 2014]. …”

Section: Introductionmentioning

confidence: 99%

“…Although triploidy is somewhat more common in pregnancies (2%), it is almost always incompatible with life [van de Laar et al , 2002; Wellesley et al , 2012]. Individuals with triploidy share features of pre- and post-natal growth retardation, syndactyly involving one or more extremities, microphthalmia, coloboma, cleft lip and/or palate, renal anomalies, and ambiguous external genitalia [Boonen et al , 2011; Doshi et al , 1983; van de Laar et al , 2002]. Facial and body asymmetry is also typical.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive

Posey

Mohrbacher

Smith

et al. 2015

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Triploid mosaicism is a rare aneuploidy syndrome characterized by growth retardation, developmental delay, 3-4 syndactyly, microphthalmia, coloboma, cleft lip and/or palate, genitourinary anomalies, and facial or body asymmetry. In the present report, we describe a 3-month-old female presenting with failure to thrive, growth retardation, and developmental delay. A chromosomal microarray demonstrated monosomy X, but her atypical phenotype prompted further evaluation with a chromosome analysis, which demonstrated 45,X/68,XX mixoploidy. To our knowledge, this is the first report of a patient with this chromosome complement. Mosaicism in chromosomal aneuploidies is likely under-recognized and may obscure the clinical diagnosis. At a time when comparative genomic hybridization and genome sequencing are increasingly used as diagnostic tools, this report highlights the clinical utility of chromosome analysis when a molecular diagnosis is not consistent with the observed phenotype.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive

Posey

Mohrbacher

Smith

et al. 2015

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Most described mixoploids contain a mixture of triploid and diploid cells (van de Laar et al 2002;Boonen et al 2011). Similar to chimeras, the origin of mixoploids is not well known, including speculation on fusion of a diploid with a triploid zygote (van de Laar et al 2002), fusion of a polar body with a diploid blastomere (Quigley et al 2005), or fertilization errors, e.g., dispermic fertilization, leading to a triploid conceptus that subsequently loses an entire haplotype of a parental genome in part of the cells (Uchida and Freeman 1985;Zaragoza et al 2000).…”

mentioning

confidence: 99%

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

et al. 2016

View full text Add to dashboard Cite

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.

show abstract

“…Diploid/triploid mosaicism has been reported in children and young adults ( Van de Laar et al, 2002;Rittinger et al, 2008;Boonen et al, 2011), with the oldest reported case of a patient at 21 years (Fryns et al, 1980). The lack of a phenotypic description in adults may contribute toward the small numbers of patients diagnosed with this condition.…”

Section: Discussionmentioning

confidence: 99%