Table 1 Selected clinical features were demonstrated by comparing our cohort with mosaic RCX and selected RCX literature.
Findings | Subjects | 45,X/46,X,r(X) | Reference | |
|---|---|---|---|---|
RCX | ||||
Short stature | 15/17 | 88% | R | |
Cognitive impairment/developmental delay | 8/17 | 47% | 33–52% | |
High arched palate | 7/17 | 41% | 34% | |
Hearing loss | 5/17 | 29% | R | |
Low posterior hairline | 5/17 | 29% | 19% | |
Widely spaced nipples | 5/17 | 29% | R | |
Neck webbing | 4/17 | 24% | 4% | |
Seizures | 4/17 | 24% | 10% | |
Abnormality of the kidney | 4/17 | 24% | R | |
Autoimmune disease | 417 | 24% | R | |
Bicuspid aortic valve | 3/17 | 18% | 15% | |
Coarctation of aorta | 2/17 | 12% | 4% | |
Lymphedema | 2/17 | 12% | 18% | |
Strabismus | 1/17 | 6% | R | |
Short metacarpal bones | 1/17 | 6% | 23% | |
Ovarian dysgenesis/ovarian insufficiency | R | 40% | ||
Kabuki syndrome | NR | 13% | ||
