Table 2.

Cytogenetics from peripheral tissue of 12 girls with Turner syndrome and hyperinsulinism

Case	Tissue	Karyotype	Breakpoint by array for marker X chromosome1	Mosaicism, %	Retained X-chromosome
1	saliva	45,X/46,X,der(X)	57,887,251–81,791,171	80/20	paternal
2	blood	45,X	nil	100	unknown
3	blood	45,X	nil	100	paternal
	pancreas	45,X/46,X,der(X)	51,842,388–97,325,244	85–95/5–15	paternal
4	skin	45,X/46,X,der(X)	48,590,277–87,675,358 (x2)	50/50	unknown
5	blood	45,X/46,X,r(X)	56,265,083–74,416,032	75/25	paternal
6	blood	45,X/47,X,r(X),+8/46,X,r(X)	27,417,191–5,971,720	30–35/15–20/65–70	maternal
7	blood	45,X	not performed	100	maternal
	pancreas	45,X	nil	100	maternal
8	blood	45,X/46,X,r(X)	56,528,492–57,406,256; 57,448,699–74,022,927 (x2); 74,048,902–78,048,530	50/50	unknown
9	blood	45,X/46,X,+mar/46,X,psu idic(X) (p11.23)/47,X,psu idic(X)(p11.23), +psu idic(X)(p.11.23)	not performed	27/33/37/3	unknown
10	blood	45,X/47,XXX	not performed	63/37	unknown
11	blood	45,X	nil	100	unknown
12	amniotic fluid	45,X	nil	100	unknown

¹See Figure 2; coordinates correspond to GRch38/hg38.