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Fig. 4 | BMC Medical Genomics

Fig. 4

From: Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

Fig. 4

HR-DSCR as highlighted by the partial trisomy 21 integrated map (simplified view). The cases described in the present work are shown (Cases 1, 2, 3, 4); moreover, the cases (#059, #105 and #113, intellectual disability used in [12] and the copy number variant (CNV, nsv1060057, from Database of Genomic Variants, http://dgv.tcag.ca/) strictly defining HR-DSCR limits are shown here. Light grey bar: disomic region; dark grey bar: trisomic region: Blue bar: monosomic region. Case n. 1 (this work); Case n. 2 (this work); Case n. 3 [19]; Case n. 4 [20]; #059: Case DUP21SOL [8]; #105: [29]; #113: Case DUP21HAD [8]. DS: subject with Down syndrome; non-DS: subject without Down syndrome

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