Fig. 4
From: Complex X chromosome rearrangement associated with multiorgan autoimmunity
Detailed analysis of the rearranged X chromosome using NimbleGene Array (assembly GRCh37/hg19). a The ideogram delineates genomic regions with the cytogenetic bands on normal X chromosome. b Panel “b” reveals the result of the array-CGH genotype. The CGX ISCA plus array showed a 58.494 Mb loss (ChrXp22.33-p11.; one copy) and an 80.370 Mb three copies gain (ChrXq11.1-q27.3). Furthermore, there is a 1.6 Mb normal two copies region (ChrXq27.3) and an 11.1 Mb three copies gain (ChrXq27.3-q28). The red arrows represent the breakpoints. c Panel “c” indicates genomic regions with cytogenetic bands on the complex rearranged X chromosome of the patient. d Panel “d” represents genes and positions which are affected in this patient. The blue rectangle indicates those genes which can be associated with immunodeficiency and the red rectangle represent the genes involved in POF phenotype. The red arrows represent the breakpoints