Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.

@article{GarcaCastillo2008ClinicalAG,
  title={Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.},
  author={Herbert Garc{\'i}a-Castillo and Ana Isabel V{\'a}squez-Vel{\'a}squez and Horacio Rivera and Patricio Barros-N{\'u}{\~n}ez},
  journal={American journal of medical genetics. Part A},
  year={2008},
  volume={146A 13},
  pages={1687-95}
}
Mosaic variegated aneuploidy (MVA) is a rare autosomal recessive syndrome related to BUB1B gene mutations and characterized by multiple mosaic aneuploidies, cancer predisposition, and a distinct phenotype. We report on two mildly affected sibs with MVA syndrome but without BUB1B mutation. Both patients exhibited growth retardation, frontal bossing, triangular face and micrognathia but not microcephaly or cancer. Aneuploidies were assessed both in G-banded metaphases from lymphocyte cultures and… CONTINUE READING

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