Figure 1

Short-read Whole genome sequencing results of patient 1 and conventional and molecular cytogenetic analysis for patient 2. (a) The CCR of patient 1 involved 7 breakpoints: one on the short arm of the derivative chromosome 7 7p21.3 region along with two deletions (chr7:11,801,000–11,791,000 and chr7:10,257,000–10,656,000), one on the short arm of the derivative chromosome 12 12p13.31 region (chr12:9,015,000–9,015,001) and the remaining 5 breakpoints on the long arm of the derivative chromosome 12 (chr12:41,698,000–41,698,001 proximal 12q12 breakpoint; chr12:101,314,000–101,314,001, chr12:101,346,000–101,346,001, chr12:101,406,000–101,406,001, chr12:101,441,000–101,441,001 distal 12q23.2 breakpoints). Genomic positions are described according to the hg38 genome assembly. (b) Circos plot showing the 3 events of the CCR of patient 1: the insertion and the pericentric and paracentric inversions. (c) G-banded standard karyotype designated as 46,XX (patient 2). (d) FISH analysis on buccal swab using centromeric probe for chromosome 18 (blue, 2 signals), chromosomes X (green, 2 signals) and chromosome Y (red, no signal) (patient 2). (e) FISH analysis on buccal swab using centromeric probe for chromosome X (blue, 2 signals), chromosome Y heterochromatic region (green, no signal) and SRY gene locus on chromosome Y (red, no signal) (patient 2).