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Figure 2 | Molecular Cytogenetics

Figure 2

From: Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Figure 2

Chromosome 6p deletion in patients 1-6 - a) Array CGH probe plots in patients 1-6. X axis, chromosome 6 position; Y axis, log2 ratio. Semitransparent filled boxes on CGH plots highlight the region of aberration. b) Patient 1-specific junction fragment is not present in his unaffected mother (Mo) or unaffected control (Co). M, marker. c) Chromatogram showing the breakpoint fusion in the patient 1-specific junction fragment. d) Metaphase FISH showing a deletion at 6p22.3 in patient 5. Chromosome 6p22.3-specific BAC clone RP11-140A3 is labeled in red, and the chromosome 6 centromere control probe D6Z1 is labeled in green. The presence of one red signal indicates deletion of 6p22.3 on one homologue (arrow). e) Interphase FISH showing a deletion at 6p24.1-p22.3 in patient 6. Chromosome 6p23-specific BAC clone RP11-127P7 is labeled in red, and the chromosome 6 centromere probe is labeled in green as a control. The presence of one red signal indicates deletion on one homologue (del 6). Nl6, normal chromosome 6.

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Molecular Cytogenetics

ISSN: 1755-8166