Figure 4 | Scientific Reports

Figure 4

From: A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

Figure 4

(A) Sequences of the junction fragment composed of two different chromosomes at the translocation breakpoints. Sequence comparison of the normal chromosomes 7 and 12 with der(7) and der(12) at the breakpoints junctions. Three bp sequence CTC from chr12 is deleted at the junction of der(7), and a 17 bp insertion was found at the junction of the der(12). (B) Transcript levels of INTS13, TM7SF3, STK38L, ARNTL2, PPFIBP1, REP15, FAR2, ERGIC2, TMTC1, TSPAN11, and DENND5B in five different human tissues (i.e. brain, fetal brain, muscle, ovary and testis) were determined by RT-qPCR. Varying levels of expression of these candidate genes were detected in different tissue samples.

Back to article page