Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes

Prenatal Diagnosis
Anna Lisa NucaroPaolo Moi

Abstract

We describe the first case of mosaic supernumerary marker iso (8p) displaying a karyotype discordance between chorionic villi (CV) and amniotic fluid (AF) cultures during prenatal cytogenetic diagnosis. In the first trimester, cytogenetic analysis after chorionic villi sampling (CVS) was normal in all metaphases in the short-term cytotrophoblast cell culture, but an undefined supernumerary marker was detected in 60% of mesenchymal cells in the long-term CV culture. Informed of the mosaicism, the couple selected amniotic fluid sampling as a second-trimester confirmatory diagnostic procedure. The supernumerary marker was absent in all of the 25 available AF cells metaphases. The prospective parents received genetic counselling and were informed that the discordance could be interpreted as a placental confined mosaicism or as a true foetal mosaicism with low percentage of affected cells. The couple opted to continue the pregnancy. In the second month of life, the child had abnormal development with severe psychomotor delay and frequent episodes of epilepsy. Postnatal cytogenetic extensive re-evaluation discovered that the previously detected supernumerary marker was indeed an isochromosome (8p) rearrangement present at low frequen...Continue Reading

References

Mar 1, 1989·American Journal of Medical Genetics·M RobinowJ W Landers
Jan 24, 1998·American Journal of Medical Genetics·R M NapoleoneH C Andersson
Apr 11, 2003·American Journal of Medical Genetics. Part a·I López-PajaresP Garcia Sanchez
Jun 10, 2003·American Journal of Medical Genetics. Part a·Marie-Josée Le BrisMarc De Braekeleer

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Citations

Jul 29, 2010·Clinical Dysmorphology·Brian T WilsonRichard B Fisher
Mar 14, 2007·Current Opinion in Obstetrics & Gynecology

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