Misinterpretation of Trisomy 18 as a Pseudomosaicism at Third-Trimester Amniocentesis of a Child With a Mosaic 46,xy/47,xy,+3/48,xxy,+18 Karyotype

Ravenswaaij-Arts, Conny M. A. van; Tuerlings, J.H.A.M.; Heyst, A.F.J. van; Nijhuis, J.G.; Niehof, J.P.; Smeets, Dominique

doi:10.1002/(sici)1097-0223(199704)17:4<375::aid-pd55>3.0.co;2-v

Cited by 13 publications

(2 citation statements)

References 17 publications

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“…Both extra chromosomes in all of 10 cases of double trisomy were of maternal origin. While some cases of mosaicism including double trisomy were reported (Van Ravenswaaij‐Arts et al . 1997; Devriendt et al .…”

Section: Discussionmentioning

confidence: 99%

Parental origin and cell stage of non‐disjunction of double trisomy in spontaneous abortion

Tsukishiro

Nakagawa

et al. 2005

Congenital Anomalies

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Using polymorphic analysis of microsatellites, we investigated the parental origin and mechanism of double trisomies seen in cases of spontaneous abortion. We obtained chorionic villi from spontaneous abortions, and peripheral blood from females who experienced abortion and their spouses. Chromosomal analysis of 170 cases revealed four cases with double trisomy. The karyotypes of these cases are 48,XX,+16,+22, 48,XXY,+18, 48,XX,+15,+21 and 48,XX,+2,+5. In the present study, the incidence of double trisomy was 2.4% of spontaneous abortions. Polymorphic analysis of microsatellites indicated that extra chromosomes were all of maternal origin in the four cases of double trisomy. The predominance of maternal origin in cases of double trisomy is similar to cases of single trisomy. The result also indicated that both extra chromosomes in two cases occurred by non-disjunction at the first meiotic division, and extra chromosomes in the other two cases occurred by non-disjunction at the first mitotic division. The mean maternal age in cases of double trisomy was significantly higher than that in cases of single trisomy. These findings suggest the possibility that abnormal separation of two or more chromosomes may occur simultaneously in oogonia, and that this phenomenon may increase in relation to the increase in age of women.

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Section: Discussionmentioning

confidence: 99%

Parental origin and cell stage of non‐disjunction of double trisomy in spontaneous abortion

Tsukishiro

Nakagawa

et al. 2005

Congenital Anomalies

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show abstract

“…The article entitled 'Misinterpretation of trisomy 18 as a pseudomosaic at third-trimester amniocentesis of a child with a mosaic 46,XY/47,XY,+3/ 48,XXY,+18 karyotype' by Van Ravenswaaij-Arts et al (1997) is misleading. A number of issues regarding reporting and interpretation of the cytogenetic data and appropriate follow-up warrant further discussion.…”

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confidence: 99%

Further insights gained from diagnosis of two abnormal cell lines at amniocentesis

Barrett

Kalousek

1998

Prenat. Diagn.

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Prenatal interphase detection by FISH of a sex chromosome mosaicism when cytogenetics reports a pseudomosaicism

et al. 1999

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Misinterpretation of Trisomy 18 as a Pseudomosaicism at Third-Trimester Amniocentesis of a Child With a Mosaic 46,xy/47,xy,+3/48,xxy,+18 Karyotype

Cited by 13 publications

References 17 publications

Parental origin and cell stage of non‐disjunction of double trisomy in spontaneous abortion

Parental origin and cell stage of non‐disjunction of double trisomy in spontaneous abortion

Further insights gained from diagnosis of two abnormal cell lines at amniocentesis

Prenatal interphase detection by FISH of a sex chromosome mosaicism when cytogenetics reports a pseudomosaicism

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