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Figure 2 | Molecular Cytogenetics

Figure 2

From: 6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

Figure 2

Representation of genotype-phenotype correlations of 6p22.3 deletions. Schematic representation of genotype-phenotype correlations in patients with 6p22.3 deletions on 3 physical maps named “ASD” (A), “Hypotonia” (B) and “ID” (C). The grey block represents 10Mb of 6p chromosomal region; genes in the 6p22.3 genomic interval are represented (not in scale) with candidate genes for ID and ASDs in bold, underlined, and candidate genes for hypotonia in grey blocks. The numbered columns (1–12) represent 12 deletions in 12 patients. For the concerned features, dark bars represent symptomatic patients, white bars represent asymptomatic patients, and light grey bars represent unassessed patients. 1: Present case; 2: Zvi et al., 2011 [6]; 3: Patient 2 [5] (no formal ASDs testing was performed); 4: Patient 1 [5]; 5: Patient 95–800 [1]; 6: Patient P1 [2]; 7: Patient 4 [5]; 8: Patient 5 [5]; 9: Bremer et al., 2009 [4]; 10: Patient P2 [2]; 11: Patient 91–145 [1]; 12: Patient 6 [5] (Although a formal ASDs testing was not performed, this patient showed ASDs associated features such as hyperactivity, speech delay, behavioral abnormalies).

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