A Case of Maternal Uniparental Disomy of Chromosome 9 in Association With Confined Placental Mosaicism for Trisomy 9

Wilkinson, Tracy A.; James, Rowena S.; Crolla, John A.; Cockwell, Annette E.; Campbell, Paul L.; Temple, I. Karen

doi:10.1002/(sici)1097-0223(199604)16:4<371::aid-pd866>3.0.co;2-s

Cited by 27 publications

(8 citation statements)

References 10 publications

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“…Although most reported cases of UPD were found to be associated with CPM type III, with high levels of trisomic cells in both placental lineages, a few cases were found to be associated with CPM type I (Jones et al, 1995;Wilkinson et al, 1996). Robinson et al (1997) showed that CPM type II (abnormal cells confined to the extraembryonic mesenchyme) may sometimes have a meiotic origin with a risk for UPD, although Wolstenholme (1996) stated, on the basis of observations and theoretical considerations, that meiotic errors are not assumed to be associated with CPM type II.…”

Section: Discussionmentioning

confidence: 99%

Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy

et al. 1998

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In most reported cases of uniparental disomy (UPD) associated with confined placental mosaicism (CPM), a high level of mosaicism or a full trisomy was found in chorionic villi. At the time that we started our investigations, it was not quite clear whether fetal UPD also existed in the more frequently occurring low levels of mosaicism. During a 4‐year period, a follow‐up amniocentesis was performed in all cases of mosaic or non‐mosaic trisomy detected in chorionic villus (CV) semi‐direct preparations and suspected to be confined to the placenta. We performed fluorescent in situ hybridization (FISH) on uncultured amniotic fluid cells to differentiate between generalized mosaicism and CPM. We found 29 cases of CPM and we determined the incidence of UPD in 23 of these cases. Normal biparental chromosome contributions were found in 22 cases. In one case, we detected a maternal heterodisomy for chromosome 16. UPD appeared to be a rare phenomenon in the cases of CPM (type I and/or type III) that we encountered in 3958 consecutively investigated CV samples, and is not the cause of the pregnancy complications found in seven out of 23 cases with CPM. © 1998 John Wiley & Sons, Ltd.

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Section: Discussionmentioning

confidence: 99%

Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy

et al. 1998

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“…Adverse clinical outcomes suggest that a proportion of type I CPM with 100 per cent trisomy may also have a meiotic origin. A single report of UPD, associated with mosaic type I trisomy 9 (9/12 cells abnormal, Wilkinson et al, 1996), and one of trisomy 3 CPM with subsequent pregnancy loss (Ledbetter et al, 1992) indicate that for these chromosomes at least, the small number of type I distributions with high proportions of abnormal cells may also include meiotic cases.…”

Section: Meiotic Versus Mitotic Origins For Individual Cpmsmentioning

confidence: 99%

Confined Placental Mosaicism for Trisomies 2, 3, 7, 8, 9, 16, and 22: Their Incidence, Likely Origins, and Mechanisms for Cell Lineage Compartmentalization

1996

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Analysis of confined placental mosaicism (CPM) for trisomies 2, 3, 7, 8, 9, 16, and 22, in diagnostic chorionic villus sampling procedures, demonstrates apparent incidences of CPM for individual trisomies of between 9 and 91 cases per 100 000 pregnancies, with trisomy 7 being the most common. More detailed analysis of the percentage of aneuploid cells present, and the distribution of abnormality between the cytotrophoblast and extra‐embryonic mesoderm cell lineages, shows a highly specific pattern for each chromosome. Theoretical considerations, in conjunction with direct observations, indicate that the overriding influence on the patterns of cell distribution seen in CPM is the distribution of aneuploid cells laid down during blastogenesis. This in turn reflects closely the origin of mosaicism from either correction of a trisomic conception or post‐fertilization somatic error. The pattern of aneuploid cells for each trisomy, as seen at the end of the first trimester and later in pregnancy, can therefore be used to predict the relative contribution of meiotic and mitotic errors to CPM, and hence the likely incidences of uniparental disomy from this source, upd(16)mat being the most common (1 in 10 000 continuing pregnancies). In addition, CPM for trisomies 2, 3, and 8 shows strong evidence of a non‐random distribution of aneuploid cells between the different extra‐embryonic cell lineages. Analysis of comparable data from spontaneous abortion material repeats this non‐random pattern for trisomies 2 and 3, and suggests that a similar phenomenon may also be occurring for trisomy 22. A non‐random distribution could be attributable to selection for or against, or intolerance of, particular trisomic cells in certain lineages, but is more probably a result of either cell lineage‐specific non‐disjunction or consistent uneven compartmentalization of aneuploid cells during blastocyst development.

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“…The absence of the paternal allele in cultured AF could be due to loss of the trisomic cell line in prolonged culturing of AF cells. Despite the rarity of chromosome 9 aneuploidy, one postnatal and one prenatal case of maternal UPD 9 have been reported before (Willatt et al, 1992;Wilkinson et al, 1996). So, there seems to be a tendency for chromosome 9 aneuploidy to result in maternal UPD 9.…”

Section: Discussionmentioning

confidence: 96%

Prenatal diagnosis of trisomy 9: cytogenetic, FISH, and DNA studies

et al. 1997

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A Case of Maternal Uniparental Disomy of Chromosome 9 in Association With Confined Placental Mosaicism for Trisomy 9

Cited by 27 publications

References 10 publications

Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy

Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy

Confined Placental Mosaicism for Trisomies 2, 3, 7, 8, 9, 16, and 22: Their Incidence, Likely Origins, and Mechanisms for Cell Lineage Compartmentalization

Prenatal diagnosis of trisomy 9: cytogenetic, FISH, and DNA studies

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