Comparison of subjects mosaic for a 47,XXX cell line with 45,X and 45,X/46,X Turner syndrome: data from clinic population and medical publications
| Clinic | Published reports | Clinic | ||||
|---|---|---|---|---|---|---|
| Karyotype | X/XXX | X/XX/XXX | X/XXX | X/XX/XXX | 45,X | X/XX |
| *Recurrent pregnancy loss (1), behavioural problems (1). | ||||||
| †Mental retardation (3), secondary amenorrhoea (3), hypoplastic left heart (1). | ||||||
| ‡Secondary amenorrhoea or fetal wastage (15), hypoplastic left heart (1), abnormal offspring (6), cancer (5), ambiguous genitalia (1), newborn screening (1), Hirschsprung disease (1). | ||||||
| §Mental retardation (1), failure to thrive ± developmental delay (3), unusual facies (4), congenital heart disease (3), multiple malformations (1), GI bleeding (1), premature ageing (1). | ||||||
| ¶Mental retardation (1), failure to thrive (1), unusual facies (4), hirsutism (1), pregnancy loss (2). | ||||||
| No | 11 | 6 | 18 | 62 | 227 | 69 |
| Age range (y) | 5–54 | 1.5–60 | 0–55 | 1–67 | 0–80 | 0–74 |
| Mean age (y) | 20.7 | 21.4 | 15.4 | 29.4 | 18.9 | 17.4 |
| Reason for diagnosis (No) | 11 | 6 | 11 | 56 | 224 | 65 |
| Oedema | 0 | 0 | 0 | 0 | 89 (40%) | 4 (6%) |
| Short statute | 8 (73%) | 1 (17%) | 4 (33%) | 8 (14%) | 66 (29%) | 16 (24%) |
| Amenorrhoea | 2 (18%) | 1 (17%) | 0 | 16 (29%) | 44 (20%) | 12 (18%) |
| Prenatal | 1 (9%) | 2 (33%) | 0 | 2 (4%) | 11 (5%) | 24 (37%) |
| Other | 0 | 2* (33%) | 7† (66%) | 30‡ (53%) | 14§ (8%) | 9¶ (14%) |