Fig. 1 | Scientific Reports

Fig. 1

From: Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling

Fig. 1

(A) Family 14. Left: Karyogram revealing a normal karyotype of 46,XX. Right: Circos plot illustrating the translocation of chromosome 4 and 16. (B) Family 32. Left: Optical genome mapping results and the genome-wide Circos plot; the pink line connecting chromosomes 8 and 14 represents the translocation. Right: Translocation of chromosome 8 and 14 disrupts AGO2 on chromosome 8. (C) Family 33. Left: Circos plot illustrating an 8-kb deletion as an orange pot (red box). Right: Genome map revealing the effects of the deletion on exons 2–3 of SHH.

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