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Figure 3 | Molecular Cytogenetics

Figure 3

From: Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

Figure 3

Array CGH with FISH validation data for cases 10 (A, C) and 23 (B, D) (Table 3). (A) The array CGH results for chromosome 5. Arrow indicates deletion of the Sotos syndrome critical region (5q35.3), including the NSD1 gene. (B) The array CGH results for chromosome 15. Arrow indicates duplication of the PWS/AS syndrome critical region (15q11.2). (C) FISH with a 5q35.3 specific region probe; arrow indicates a deletion of the probe (NSD1-) in a del(5)(q35.3q35.3) chromosome. Deletion of the NSD1 gene region (red signal) was observed by FISH analysis, 46, XY, ish del(5)(q35.3q35.3)(D5S404+, NSD1-) (D) FISH with 15q11.2 specific region probe; arrows indicate a duplication of the probe (SNRPNĂ—3) in interphase cells.

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