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Marina di Pisa, Italy

Valetto A.,Cytogenetics and Molecular Genetic Unit | Orsini A.,Neurological Section | Bertini V.,Cytogenetics and Molecular Genetic Unit | Toschi B.,Cytogenetics and Molecular Genetic Unit | And 6 more authors.
European Journal of Medical Genetics | Year: 2012

We report on a . de novo interstitial deletion of chromosome 21q in a patient presenting with characteristic facial features, intellectual disability, and epilepsy. The deletion extent was about 4.9 Mb from position 37713441 bp (21q22.13) to position 42665162 bp (21q22.3) (NCBI36/hg18 map).Patients with partial monosomy 21 are quite rare; this anomaly has been associated with a wide spectrum of clinical signs, ranging from very mild to quite severe phenotypes. This variability results from variability in the deleted regions, thus accurate molecular definition of the chromosomal breakpoints is necessary to make better genotype-phenotype correlations.We compared our patient's phenotype with the few other patients reported in the literature and found to have similar deletion when analyzed by array CGH. The minimal overlapping region contains only two genes, . DYRK1A and . KCNJ6, which may play a major role in these patients' phenotype. © 2012 Elsevier Masson SAS. Source

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