Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.

  title={Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.},
  author={Walter Zumkeller and Marianne Volleth and Petra Muschke and Holger Toennies and A. Kevin Heller and Thomas Liehr and Peter F. Wieacker and Markus Stumm},
  journal={American journal of medical genetics. Part A},
  volume={129A 3},
Reports on patients with pure and complete trisomy 12p are rare. Up to now, 12 cases have been described in the literature. Here, we report on the genotype/phenotype-correlation of a female patient with a pure trisomy 12p. Conventional cytogenetic studies on peripheral blood chromosomes as well as molecular cytogenetic (fluorescence in situ hybridization, FISH) techniques including whole chromosome painting (WCP), comparative genomic hybridization (CGH), multicolor-banding (MCB) detected a… CONTINUE READING
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