Fig. 4

Comorbidities per International Classification of Diseases version 10 (ICD-10) chapter for the four subgroup comparisons: female and male Down syndrome (DS) and fragile X syndrome (FXS) and non-mosaic and mosaic DS and Turner syndrome (TS). Significant comorbidities were extracted from each subgroup and summarized by disease chapter. Each dot represents a comorbidity (orange for females, blue for males, gray for non-mosaic, and black for mosaic) with a certain relative risk (RR). a Female and male DS were both associated with several comorbidities, but female DS had more comorbidities from chapter III “Diseases from the blood and blood-forming organs and certain disorders involving the immune mechanism,” while male DS had more diseases from chapter XIV “Diseases of the genitourinary system.” b Only three significant comorbidities were observed for female FXS, while males were more severely affected, especially with diseases from chapter V “Mental and behavioral disorders” and chapter VI “Diseases of the nervous system.” (c,d) Both DS and TS non-mosaic patients show a more severe phenotype with 211 and 49 significant comorbidities, respectively, compared with DS and TS mosaic patients, with only 16 and 1 comorbidities, respectively. Titles of disease chapters are shortened (see Fig. 1). See Tables S3–S7 for more information.