DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion

@article{Bartsch2003DiGeorgevelocardiofacialSF,
  title={DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion},
  author={Oliver Bartsch and Michaela Něme{\vc}kov{\'a} and Eduard Koc{\'a}rek and Annett Wagner and Alena Puchmajerov{\'a} and Maja Poppe and Katrin {\~O}unap and Petr Goetz},
  journal={American Journal of Medical Genetics Part A},
  year={2003},
  volume={117A}
}
DiGeorge anomaly/velocardiofacial syndrome (DG/VCFS) occurs with different deletion intervals on chromosomes 22q11, while the DiGeorge anomaly (with other findings) is seen in patients with deletions of 10p14. The clinical outcome with the common 22q11 deletion (90% of cases) is well known, but the outcome with the less frequent deletion types has not been well documented. Using cytogenetic and fluorescence in situ hybridization (FISH) analysis we studied a series of 295 patients with suspected… Expand
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  • 2007
TLDR
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TLDR
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TLDR
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