Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy
Figure 3
Trypsin-Giemsa karyotype 46,XY,del(4)(q33) from peripheral blood cells in the patient, the arrow indicates the abnormal chromosome 4 (a). Metaphase FISH image (b) from peripheral blood hybridized with Vysis 4p/4q subtelomere probes. The small arrow shows the deletion of the 4qsubtel region (red) on the abnormal 4q33 deletion chromosome. The 4psubtel region shows the normal green signals for both chromosomes 4. ish del(4)(q33)(4psubtel+; 4qsubtel−). The array CGH (c) depicting the terminal deletion on long arm of chromosome 4 and its breakpoints. The deletion starts at 177,732,852 and ends at 191,279,059 bp on Chr4 and is nearly 13.5 Mb. There are 72 genes in the region based on NCBI Build 35.1 for Homosapiens.
