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(A) G-banded karyotype showing a karyotype of 46,XX,del(8)(p22p11.23)inv(13). The arrows indicate the breakpoints on normal chromosomes. (B) CytoScan HD array present with an 18.5-Mb deletion at chromosome bands 8p22–p11.23(18,634,986–37,160,315)x1 (NCBI build 37/hg19). (C) zoomed-in view. Red spots indicate the sites of NKX2-6 and NRG1.
