Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism.

@article{Kosaki2006DiscrepanciesIC,
  title={Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism.},
  author={Rika Kosaki and Sae Hanai and Hiroki Kakishima and Michiyo A Okada and Satoshi Hayashi and Yushi Ito and Takao Takahashi and Kenjiro Kosaki and Torayuki Okuyama},
  journal={Congenital anomalies},
  year={2006},
  volume={46 2},
  pages={
          115-7
        }
}
When amniocentesis reveals a mosaic karyotype and the baby presents with multiple malformations, an analysis of the baby's peripheral blood typically reveals a mosaic karyotype. We present a boy who was prenatally diagnosed by amniocentesis as having trisomy 9 mosaicisim but who had normal G-banding results on postnatal blood karyotyping; the patient also exhibited multiple malformations, including a diaphragmatic hernia, arthrogryposis, undescended testes, and characteristic facies. Because of… CONTINUE READING
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