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Fig. 2 | Molecular Cytogenetics

Fig. 2

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

Fig. 2

Comparison of 21q deletion cases with mild (purple) and moderate/severe (green) phenotypes (behavioral disorders and intellectual disability, respectively). The protein-coding genes of 21q region are mainly grouped into two main clusters. The proximal cluster includes genes more likely involved in intellectual disability (BTG3 and RBM11), whereas the distal cluster mainly contains genes related to behavioral disorders, such as GRIK1 (almost completely deleted in the case reported by Haldeman-Englert et al., [13]). KKI-3, GM00137, and ECARUCA#4777 cases also had rearrangements involving chromosomes other than 21 (as reported in Table 1) that might contribute to the clinical severity

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Molecular Cytogenetics

ISSN: 1755-8166