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Figure 2 | BMC Medical Genetics

Figure 2

From: Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

Figure 2

Microdeletion characterization. (A) For the array-CGH profile of chromosome 8, clones are ordered on the X axis from pter to qter according to physical mapping position. The Y axis (blue and red) mark the normalized hybridization Cy5:Cy3 and Cy3:Cy5 ratios of the two arrays. Black arrow showed microdeletion of a single clone (RP11-96G1) on 8q21.2 (ratio plot: 0.67 in both experiments). (B) Confirmation of array CGH results using FISH analysis with RP11-96G1 clone. White arrow shows the chromosome 8 containing the microdeletion. (C–D) FISH with RP11-133G2 and RP11-179B4, overlapping partially the deleted clone, showed that microdeletion spreads out along ~150 Kb. (E) The panel shows the deleted region in 8q21.2 cytogenetic band using the UCSC browser, in which the involved BAC clone and genes are displayed.

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BMC Medical Genetics

ISSN: 1471-2350

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