TSitologiya i Genetika 2006, vol. 40, no. 5, 28-30
Cytology and Genetics , vol. , no. , , doi: https://www.doi.org/

Chimerism and multiple numerical chromosome imbalances in a spontaneously aborted fetus

Vorsanova S.G., Iourov I.Y., Demidova I.A., Kirillova E.A., Soloviev I.V., Yurov Y.B.

We report on a case of chimerism and multiple abnormalities of chromosomes 21, X and Y in spontaneous abortion specimen. To the best our knowledge the present case is the first documented chimera in a spontaneously aborted fetus. The application of interphase fluorescence in situ hybridization (FISH) using chromosome enumeration and site-specific DNA probes showed trisomy X in 92 nuclei (23 %), tetrasomy X in 100 nuclei (25 %), pentasomy of chromosome X in 40 nuclei (10 %), XXY in 36 nuclei (9 %), XXXXXXYY in 12 nuclei (3 %), XXXXXYYYYY in 8 nuclei (2 %), trisomy 21 and female chromosome complement in 40 nuclei (10 %), normal female chromosome complement in 72 nuclei (18 %) out of 400 nuclei scored. Our experience indicates that the frequency of chimerism coupled with multiple chromosome abnormalities should be no less than 1 : 400 among spontaneous abortions. The difficulties of chimerism identification in fetal tissues are discussed.


TSitologiya i Genetika
2006, vol. 40, no. 5, 28-30

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