Figure 1:

Genomic organization of locus 6p21.3, CAH-X chimeras and their molecular characterization. (A) Locus 6p21.3 and RCCX module showing the genes and respective pseudogenes (Adaptation from Marino, 2021). (B) Representation of the three types of CAH-X chimeras (CH1, CH2, and CH3) identified to date. The squares in clear gray represent TNXB exons, whereas TNXA exons are represented in dark gray. The molecular variants that characterize each chimera are indicated (Adaptation from Marino, 2021). (C) Scheme displaying the different techniques used for TNXB exon amplification for SCAH-X molecular characterization. The amplification primers used in PCRs are indicated next to the publication where they were suggested (Adaptation from Marino, 2021). (D) Scheme of the amplicons obtained by PCR and primers used for the sequencing of exons 35, 40, 41, and 43 of TNXB.