Chimerism and multiple numerical chromosome imbalances in a spontaneously aborted fetus.
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.
Vorsanova
S G
SG
Institute of Pediatrics and Children Surgery, Roszdrav, Moscow, Russia.
Iourov
I Y
IY
Demidova
I A
IA
Kirillova
E A
EA
Soloviev
I V
IV
Yurov
Y B
YB
D037881:Aborted Fetus; D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D046528:Chimerism; D002891:Chromosomes, Human, Pair 21; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D015342:DNA Probes; D004314:Down Syndrome / Q000196:embryology / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism; D011247:Pregnancy
D015342:DNA Probes