Abstract |
We report on a fetus presenting with an increased nuchal translucency, in which chorionic villus sampling led to the diagnosis of mosaic trisomy 8. Ultrasound scan performed at 15(+6) weeks revealed bilateral cleft lip and palate, flat facial profile, and arrhinia. Pregnancy was terminated at 16(+6); postmortem examination showed additional findings including hypospadias, bilateral renal dysplasia, and focal portal fibrosis of the liver. In order to confirm the presence of trisomy 8, FISH analysis was performed in abnormal renal and hepatic tissue, which, unexpectedly, showed a higher fraction of cells with only one fluorescent probe signal (43% and 23%, respectively), if compared with normal fetal liver and kidney (3-10%). This finding is consistent with the survival in this fetus of a monosomic cell line after mitotic non-disjunction, which is in contrast with what is generally thought about mosaic trisomy genesis. We hypothesize that the possible persistence of the monosomic cell line, in addition to the variable distribution of aneuploid cells in the body tissues, could explain the high heterogeneity of mosaic trisomy 8 phenotype.
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Authors | Daniela Turchetti, Eva Pompilii, Elisabetta Magrini, Maria Paola Bonasoni, Maria Carla Pittalis, Maria Segata, Annalisa Pession, Donatella Santini, Gianluigi Pilu, Marco Seri |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 155A
Issue 11
Pg. 2791-4
(Nov 2011)
ISSN: 1552-4833 [Electronic] United States |
PMID | 21932320
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2011 Wiley Periodicals, Inc. |
Topics |
- Abnormal Karyotype
- Abortion, Induced
- Adult
- Autopsy
- Chorionic Villi Sampling
- Chromosomes, Human, Pair 8
(genetics)
- Cleft Palate
(diagnostic imaging, pathology)
- Female
- Fetus
(pathology)
- Humans
- Hypospadias
(diagnosis, genetics, pathology)
- In Situ Hybridization, Fluorescence
- Kidney
(pathology)
- Liver
(pathology)
- Male
- Monosomy
(diagnosis, genetics, pathology)
- Mosaicism
- Nuchal Translucency Measurement
- Pregnancy
- Trisomy
(diagnosis, genetics, pathology)
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