Table 2 Clinical characteristics of phenotypic females with Xp22;Yq11 translocations
Phenotype | Total (percent) | Details | |
|---|---|---|---|
All Ages | Reproductive age | ||
Reproductive | |||
Fertility | 9/29 (31%) | 9/10 (90%) | |
Delivery of normal child | 4/29 (13.8%) | 4/10 (40%) | 4 of 10 adults had a normal child |
Uterine anomaly | 2/29 (6.9%) | Hypoplastic (n = 1); bicornuate (n = 1) | |
FSH Levels | 6/29 (20.7%) | 4/10 (40%) | All normal, but only 4 of reproductive age & none were done on cycle day 2-3 |
AMH Levels | 0 | None were reported | |
Follow up | 11/29 (37.9%) | 3/10 (30%) | No reports of repeat FSH or fertility evaluation |
Gonadoblastoma | 0 | ||
Nonreproductive | |||
Short stature | 27/29 (93.1%) | ||
Intellectual disability | 3/29 (10.3%) | Microcephaly/borderline ID (n = 1);Major language delay/mild ID with IQ =70 (n = 1); Mild developmental delay, IQ = 83, global motor delay, major linguistic deficits (n = 1) | |
Facial dysmorphism | 8/29 (27.6%) | Linear skin defects of face (n = 3); upslanting palpebral fissures, brachycephaly, others | |
Eye abnormalities | 4/29 (13.8%) | Microphthalmia (n = 3); strabismus (n =1) | |
Cardiac defects | 1/29 (3.4%) | ASD | |
Skeletal defects | 8/29 (27.6%) | Madelung, mesomelia, camptodactyly, syndactyly, others | |