Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.

@article{Orellana2009CorpusCA,
  title={Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.},
  author={Carmen Orellana and M{\'o}nica Rosell{\'o} and Sandra Monfort and Silvestre Oltra and Ramiro Quiroga and Isidro Ferrer and Francisco Mart{\'i}nez},
  journal={Cytogenetic and genome research},
  year={2009},
  volume={127 1},
  pages={5-8}
}
Submicroscopic deletions of 1q44-qter cause severe mental retardation, profound growth retardation, microcephaly and corpus callosum hypo/agenesis in most patients. At least 3 intervals in 1q44 have been described as critical regions containing genes leading to corpus callosum abnormalities. In this report we describe a patient with a de novo small interstitial 1q44 deletion of 1,152 kb detected with 44K oligonucleotide array-CGH (44K Agilent Technologies) and a mild phenotype lacking corpus… CONTINUE READING

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Reproduced with the permission

  • AG S.Karger, Basel
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It is, however, conceivable that corpus callosum abnormalities might be due to a positional effect similarly to the balanced translocation in patient LR05-101

  • Bon
  • Poot et al.,
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1 Excerpt

but not in glucose homeostasis

  • Y vanBever, L Rooms, A Laridon, E Reyniers, R vanLuijk
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