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

Abstract

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.

Double Aneuploidy in Spontaneous Miscarriages: Two Case Reports and Review of the Literature

“…In our series, 54 of 403 cytogenetical analyses of miscarriage materials (13.4%) revealed aneuploidy. Double trisomies comprised 0.49% of all cases and 3.7% of all aneuploidies, which was comparable to the figures of 0.21-2.8% reported in other series [2,[4][5][6][10][11][12][13][14][15][16][17][18][19][20][21] .…”

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related to early spontaneous abortions with a range of 0.21-2.8% [4][5][6] . The clinical presentations in cases of double trisomies are variable depending on the predominating aneuploidy or a combination effect of both.

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Double Aneuploidy: A Case of Trisomy 21 with XYY

“…Al-Aish et al proposed an incidence of 1/48000 male birth however, the incidence of double trisomy have been reported to range from 0,21 to 2,8 % among the karyotypes of spontaneous abortions (4,5). Furthermore, considering the scarcity of reported cases and the fact that most of the cases ended with first trimester spontaneous abortions (4), it is difficult to determine the real incidence of association of XYY and trisomy 21.…”

Doble aneuploidía: síndromes de Klinefelter y Edwards (48,XXY,+18). Reporte de caso

“…Se ha demostrado en diferentes estudios que los cromosomas adicionales en la doble aneuploidía son casi siempre de origen materno y se encuentran fuertemente asociados con la edad materna avanzada. [7][8][9][10] En nuestro caso, la edad materna no pareciera estar relacionada, ya que la madre de nuestro propósito tenía 26 años al momento de la concepción. Estudios sobre los cromosomas extra en la trisomía 18 y el síndrome de Klinefelter han revelado una frecuencia del 91% y 50% de origen materno, respectivamente.…”