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Table 2 Clinical characteristics of phenotypic females with Xp22;Yq11 translocations

From: Long-term follow-up of females with unbalanced X;Y translocations—reproductive and nonreproductive consequences

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
  1. Only included in this table are patients 1–11 and 33–50 since the details from Hsu (cases 9–29) are not provided. There are a total of 29 patients (all ages) and 11 that are reproductive age (defined as ≥17 years). ID = intellectual disability, ASD = atrial-septal defect. For full details including references, see Table 1.