Chimerism and multiple numerical chromosome imbalances in a spontaneously aborted fetus.

Abstract

We report on a case of chimerism and multiple abnormalities of chromosomes 21, Xand Yin 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.

• Authors: S G Vorsanova, I Y Iourov, I A Demidova, E A Kirillova, I V Soloviev, Y B Yurov
• Journal: TSitologiia i genetika (Tsitol Genet) 2006 Sep-Oct Vol. 40 Issue 5 Pg. 28-30 ISSN: 0564-3783 [Print] Ukraine
• PMID: 17385415 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA Probes

Topics

• Aborted Fetus
• Abortion, Spontaneous (genetics)
• Adult
• Chimerism
• Chromosomes, Human, Pair 21
• Chromosomes, Human, X
• Chromosomes, Human, Y
• DNA Probes
• Down Syndrome (embryology, genetics)
• Female
• Humans
• In Situ Hybridization, Fluorescence
• Mosaicism
• Pregnancy