Chromosomal abnormalities, not elsewhere classified
Description
Klinefelter's syndrome: A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.
Data source
| FinnGen phenocode | Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED |
| Include | Q17_DOWN'S_SYNDR, Q17_EDWAR_SYNDR_PATAU_SYNDR, Q17_OTHER_TRISOMI_PARTIAL_TRISOMI_AUTOSOMES_NOT_ELSEW_CLASSIFIED, Q17_MONOSOMI_DELET_AUTOSOMES_NOT_ELSEW_CLASSIFIED, Q17_BALANC_REARR_STRUCTURAL_MARKERS_NOT_ELSEW_CLASSIFIED, Q17_TURNE_SYNDR, Q17_OTHER_SEX_CHROMOSOME_ABNORMALITI_FEMALE_PHENOT_NOT_ELSEW_CLASSIFIED, Q17_OTHER_SEX_CHROMOSOME_ABNORMALITI_MALE_PHENOT_NOT_ELSEW_CLASSIFIED, Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED |
| Level in the ICD-hierarchy | 2 |
| First defined in version | DF4 |
Key figures
| Sex | All | Female | Male |
| Number of individuals | 143 | 83 | 60 |
| Unadjusted prevalence (%) | 0.08 | 0.08 | 0.08 |
| Mean age at first event (years) | 28.37 | 28.79 | 27.79 |
| Case fatality at 5-years (%) | 2.8 | 2.41 | 3.33 |
Longitudinal metrics
| Sex | All | Female | Male |
| Median nb. of events per indiv. | 1 | 1 | 2 |
| Recurrence at 6 months (%) | 39.16 | 34.94 | 45.0 |
Associations
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