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Fig. 3 | Molecular Cytogenetics

Fig. 3

From: Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature

Fig. 3

Subsetting of the great 21q region 1 described by Lyle and colleagues in 2009 into two smaller subregions. Deletions in the subregion 1, from the centromere to ~ 21 Mb (including BTG3 and RBM11), are mainly associated with severe intellectual disability, whereas deletions of the subregion 2, until approximately 32 Mb (including GRIK1), are more tightly associated with milder neurobehavioral disorders, such as poor social interactions. Patients with a deletion overpassing the two subregions clinically manifested the most severe phenotype

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