Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review

@inproceedings{Nacinovich2013Interstitial1D,
  title={Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review},
  author={Renata Nacinovich and Nicoletta Villa and Serena Redaelli and Fiorenza Broggi and Monica Bomba and Patrizia Stoppa and Agnese Scatigno and Angelo Selicorni and Leda Dalpr{\`a} and Francesca Neri},
  booktitle={BMC Research Notes},
  year={2013}
}
Interstitial deletions of chromosome 11 long arm are rarely observed and the associated phenotype ranges from normal to severe, depending on the position and size of the deletion and on the presence of unmasked recessive genes on the normal homologous. To our knowledge 32 cases are reported in literature with three family cases. Phenotype-genotype correlation is not very clear and the most common features are characteristic facial dysmorphisms, palate anomalies and developmental delay. Growth… CONTINUE READING

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Anderlid BM: De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay

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