Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.

@article{Ballarati2011GenotypephenotypeCI,
  title={Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.},
  author={Lucia Ballarati and Anna Cereda and Rossella Caselli and Angelo Selicorni and Maria Paola Recalcati and Silvia Maitz and Palma Finelli and L Larizza and Daniela Giardino},
  journal={European journal of medical genetics},
  year={2011},
  volume={54 1},
  pages={55-9}
}
We describe a 6-year-old boy carrying a de novo 5 Mb interstitial deletion of chromosome 8p23.1 identified by means of oligonucleotide array comparative genomic hybridisation (array CGH), who showed the typical signs of 8p23.1 deletion syndrome, including congenital heart defects, microcephaly, psychomotor delay and behavioural problems. In order to estimate the role of suggested candidate genes, we compared the deletion of our patient with other previously reported and molecularly… CONTINUE READING

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