Fragile X features in mentally retarded males without the fragile X syndrome compared to fragile X males
| Fragile X | Non-fragile X2-150 | |||||||
|---|---|---|---|---|---|---|---|---|
| Prospective % (95% CI) (n=9) | Retrospective % (95% CI) (n=50) | Subtotal % (95% CI) (n=59) | ⩽16 years % (95% CI) (n=330) | >16 years % (95% CI) (n=557) | Subtotal % (95% CI) (n=887) | d2-151 | ||
| Fragile X related features | ||||||||
| Family history of mental retardation | 33 (8-70) | 86 (73-94) | 78 (73-94) | 16 (12-20) | 21 (18-24) | 19 (16-22) | 0.70 | |
| Elongated face | 67 (30-93) | 48 (34-63) | 51 (38-64) | 2 (1-4) | 9 (7-12) | 7 (5-8) | 0.67 | |
| Large and prominent ears | 33 (8-70) | 26 (15-40) | 27 (16-40) | 9 (6-13) | 13 (10-16) | 11 (9-14) | 0.23 | |
| Hyperextensible joints | ||||||||
| MC digit V | 44 (14-79) | 40 (26-55) | 41 (28-54) | 31 (26-36) | 19 (16-22) | 23 (21-26) | 0.33 | |
| MC digit V and digit I | 0 (0-34) | 18 (9-31) | 15 (7-27) | 6 (4-9) | 1 (1-3) | 3 (2-4) | 0.22 | |
| Soft/smooth skin | 33 (8-70) | 20 (10-34) | 22 (12-35) | 1 (0-3) | 6 (4-8) | 4 (3-6) | 0.33 | |
| Macro-orchidism | ||||||||
| Moderate/one testicle | 11 (0-48) | 8 (2-19) | 9 (3-19) | 4 (2-6) | 14 (11-17) | 10 (8-12) | −0.02 | |
| Both testicles | 67 (30-93) | 58 (43-72) | 59 (46-72) | 2 (1-4) | 8 (6-11) | 6 (5-8) | 0.85 | |
| Personality | 56 (21-86) | 64 (49-77) | 63 (49-75) | 2 (1-4) | 5 (4-7) | 4 (3-5) | 0.96 | |
| Non-fragile X related features | ||||||||
| Microcephaly | 0 (0-34) | 0 (0-07) | 0 (0-06) | 7 (4-10) | 8 (6-11) | 8 (6-10) | ||
| Non-fra(X) related dysmorphic features (⩾3 or microcephaly)2-152 | 0 (0-34) | 0 (0-07) | 0 (0-06) | 20 (15-24) | 29 (25-33) | 25 (23-28) | ||