Origin of triploidy and tetraploidy in man: 11 cases with chromosome markers

Kajii, Tadashi; Niikawa, Norio

doi:10.1159/000130756

Cited by 96 publications

(45 citation statements)

References 7 publications

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“…A few earlier reports were based on the analysis of cytogenetically distinguishable polymorphisms or restriction polymorphisms (Kajii and Niikawa, 1977;Sheppard et al, 1982;Surti et al, 1986). Kajii and Niikawa (1977) reported a zygotic failure to complete the first division in one case with tetraploidy (92,XXXX). Surti et al (1986) reported two cases with tetraploidy due to trispermy, these two cases are the first two and only reported cases to date with the karyotypes 92,XXXY.…”

Section: Discussionmentioning

confidence: 99%

Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy

Baumer

Dres

Başaran³

et al. 2003

Cytogenet Genome Res

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We report on the molecular investigations performed on an embryo with tetraploidy, karyotype 92,XXXY. The embryo was spontaneously aborted after eight weeks of gestation. Molecular analyses were performed in order to determine the parental origin and mode of formation of the two additional haploid sets of chromosomes. Microsatellite markers mapping to pericentromeric chromosome regions were used. Our results show a maternal origin of one additional set of chromosomes most likely due to the incorporation of the polar body of meiosis I and a paternal origin of the second additional set of chromosomes most likely due to dispermy. The karyotype 92,XXXY is rather unusual, indeed the vast majority of cases with tetraploidy have the karyotypes 92,XXXX or 92,XXYY. To the best of our knowledge this is the first case with 92,XXXY for which molecular investigations have been performed.

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Section: Discussionmentioning

confidence: 99%

Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy

Baumer

Dres

Başaran³

et al. 2003

Cytogenet Genome Res

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“…Such a high level of dispermy is in agreement with previous studies based on cytogenetic polymorphisms. 2,11 To the best of our knowledge this is the first report addressing the mode of formation of diandric cases using molecular analysis. No significant differences in the average maternal ages were detected in our series (cases due to digynic meiosis I errors: 31.8 years; digynic meiosis II errors: 31.5 years; and diandric: 30.5 years).…”

Section: Mode and Time Of Formationmentioning

confidence: 95%

“…[1][2][3] Two distinct phenotypes are known to be associated with triploidy. A minority of foetuses presents with moderate growth retardation, proportionately sized body parts and particularly large placentas with partial hydatidiform mole (type I [4][5][6] ).…”

Section: Introductionmentioning

confidence: 99%

Parental origin and mechanisms of formation of triploidy: a study of 25 cases

et al. 2000

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Triploidy is one of the most frequently observed chromosome abnormalities in spontaneous abortions in humans. The parental origin of the additional chromosome set is known to have a major impact on the phenotype of the foetuses and to result in differences in size and structure of the placenta. Early studies based on cytogenetic polymorphisms indicated a preponderant diandric origin of the triploidies; such detection method, however, is known to be prone to error. Other studies revealed a predominant digynic origin in cases with longer intrauterine survival. 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. Furthermore, depending on the gestational age of the cases analysed there may indeed be differences in the proportion of diandric and digynic triploidies. We investigated the parental origin and mechanisms of formation of triploidy in a group of 25 probands with gestational ages ranging from 8 to 37 weeks. DNA samples were extracted from foetal material and from blood samples of the parents, and were analysed using microsatellite markers. The parental origin of the triploidies was found to be maternal in 20 cases and paternal in 5. Regarding the digynic cases, an error at meiosis I was inferred in 10 cases, whereas in the other half an error occurred at meiosis II. All five diandric cases included in this study were found to be due to dispermy. No significant differences in the average maternal ages were found amongst the different subgroups of patients. European Journal of Human Genetics (2000) 8, 911-917.

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“…In addition, because the unbalanced translocations were associated with congenital malformations and were inherited from a phenotypically normal balanced translocation carrier, it is likely that the extra copy of the triplicated 9 McFadden et al, 10,11 Baumer et al, 12 Daniel et al 13 and Kajii et al 14 Triploidy, trisomy and choice of active X BR Migeon et al segment was expressed. Direct duplications in males and females were also mapped but were not used for exclusions, as both copies are on the same chromosome and might function as one copy rather than two and might be subject to position effects.…”

Section: Inactivation Studiesmentioning

confidence: 99%

X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X

et al. 2007

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Only one X chromosome functions in diploid human cells irrespective of the sex of the individual and the number of X chromosomes. Yet, as we show, more than one X is active in the majority of human triploid cells. Therefore, we suggest that (i) the active X is chosen by repression of its XIST locus, (ii) the repressor is encoded by an autosome and is dosage sensitive, and (iii) the extra dose of this key repressor enables the expression of more than one X in triploid cells. Because autosomal trisomies might help locate the putative dosage sensitive trans-acting factor, we looked for two active X chromosomes in such cells. Previously, we reported that females trisomic for 18 different human autosomes had only one active X and a normal inactive X chromosome. Now we report the effect of triplication of the four autosomes not studied previously; data about these rare trisomies -full or partial -were used to identify autosomal regions relevant to the choice of active X. We find that triplication of the entire chromosomes 5 and 11 and parts of chromosomes 1 and 19 is associated with normal patterns of X inactivation, excluding these as candidate regions. However, females with inherited triplications of 1p21.3 -q25.3, 1p31 and 19p13.2 -q13.33 were not ascertained. Thus, if a single key dose-sensitive gene induces XIST repression, it could reside in one of these locations. Alternatively, more than one dosage-sensitive autosomal locus is required to form the repressor complex.

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Origin of triploidy and tetraploidy in man: 11 cases with chromosome markers

Cited by 96 publications

References 7 publications

Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy

Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy

Parental origin and mechanisms of formation of triploidy: a study of 25 cases

X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X

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