Two cases of tetrasomy 9p syndrome with tissue limited mosaicism.

  title={Two cases of tetrasomy 9p syndrome with tissue limited mosaicism.},
  author={Elisabet Lloveras and Carmen P{\'e}rez and Francesc Sol{\'e} and Lourdes Zamora and A Lladonosa and Blanca Espinet and E Silvestre and Judit Serra and Teresa Vendrell and B F Mestre Fern{\'a}ndez and M Luz Godino Salido and Alberto Plaja},
  journal={American journal of medical genetics. Part A},
  volume={124A 4},
Tetrasomy of short arm of chromosome 9 constitutes a clinically recognizable chromosomal syndrome. Isochromosome 9p shows a strong propensity to tissue-limited mosaicism. It occurs predominantly in peripheral blood cultures, often at a lower frequency or even absent in skin, amniotic fluid or chorionic villous cell cultures. Tissue-limited nature of mosaicism may render prenatal detection of this condition very difficult. Herein, we report two new cases of mosaic tetrasomy 9p. Conventional… CONTINUE READING
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