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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

Figure 1

FISH and array CGH results. A) FISH with telomeric probes specific for the 3qter (red signals) and 3pter (green signal) regions. The arrow shows the absence of signal on the short arm of a chromosome 3. B) Array-CGH graphical overview of the 3p26.3 non contiguous terminal deletion. The region is deleted for the distal ~555.4 Kb from 62,075 Kb (A_18_P14035586) to 617,474 Kb (A_18_P14033572) and for the proximal ~199 kb from 758,905 Kb (A_16_P16103981) to 957,743 Kb (A_16_P16104360). Arrows indicate the non-deleted segment which spans from 626,187 Kb (A_16_P16103673) to 726,704 Kb (A_16_P36141085). From the left, the profiles refer to: first child, second child, normal mother and father. C) Custom image from UCSC Genome Browser showing an overview of the Refseq genes and CNVs content in the proximally deleted, normal and distally deleted regions.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172