Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.

@article{Li2006KaryotypephenotypeIF,
  title={Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.},
  author={Peining Li and Hui Zhu Zhang and Shannon D. Huff and Manjunath Nimmakayalu and Mazin Qumsiyeh and Jingwei Yu and Anna Sz{\'e}kely and Tian Xu and Barbara R Pober},
  journal={American journal of medical genetics. Part A},
  year={2006},
  volume={140 24},
  pages={2721-9}
}
We detected a unique de novo complex chromosome rearrangement (CCR) in a patient with multiple abnormalities including growth retardation, facial anomalies, exudative vitreoretinopathy (EVR), cleft palate, and minor digital anomalies. Cytogenetic analysis, fluorescent in situ hybridization, and microsatellite genotyping showed a reciprocal translocation between chromosomes 5 and 8, and a complex translocation-deletion-inversion process in the formation of derivative chromosomes 11 and 16. High… CONTINUE READING
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