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

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

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"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.
²The percentages were quoted or calculated from the provided references.
³Percent of patients with autoimmune thyroid disease.

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