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Table 1 Comparison of the clinical findings between patient RX1 and previously reported patients with r(X).

From: Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

Findings Case 45,X/46,X,r(X)2 Reference
  RX1   
Constitutional symptoms    
   Short stature/failure to thrive + 98% [6]
   Special education/Developmental delay - 33–52% [3, 6]
   Kabuki syndrome - 13% [3, 4]
Craniofacial features    
   High arched palate - 34% [3]
   Microcephaly - 29% [3]
   Micrognathia - R1 [8, 30]
   Thin upper lip - R [31]
ENT    
   Recurrent and chronic otitis media + 62% [3]
Eyes    
   Strabismus - R [6, 8]
Neck    
   Neck webbing - 4% [3]
   Low posterior hairline - 19% [3]
Cardiovascular    
   Bicuspid aortic valve - 15% [31]
   Aortic valve disease - 5% [31]
   Aortic coarctation - 4% [31]
Endocrine system    
   Hypothyroidism - 10%3 [32]
Skeletal system    
   Short metacarpal bones - 23% [3]
   Postaxial polydactyly - R [8]
Genitourinary system    
   Ovarian dysgenesis/ovarian failure n/a 40% [3]
Skin    
   Hypomelanosis of Ito - 2–6% [3, 6]
   Syndactyly - 15% [6]
   Lymphedema - 18% [6]
   Hypertrichosis/hirsutism - R [13, 33, 34]
Autoimmune disorders - 9% [3]
Neurologic findings    
   Seizures + 10% [6]
  1. 1"NR" indicates the finding was not reported and "R" indicates the finding was reported, but the percentage of patients is not known; "n/a" indicates that the data is not available.
  2. 2The percentages were quoted or calculated from the provided references.
  3. 3Percent of patients with autoimmune thyroid disease.