Table 1. Summary of cases presented.

Case	Karyotype	HAS21 Karyotype/FISH	HSA21 aCGH result	Reference
1	47,Xinv(Y),+21	T21	T21	This report
2	47,XY,+21	T21	T21	This report
3	47,XX,+21	T21	T21	This report
4	46,t(21;21),+21	T21	T21	This report
5	46,XY,t(21;21),+21	T21	T21	This report
6	46,XY,−21, +dir dup(21)(q11.2q22.3)	PT21	PT21	8, 18 and 23
7	46,XX, dir dup(21)(p11q22.3)	T21	T21	This report
8	47,XX,+del(21)(q22.1q22.2)	PT21	PT21	This report
9	47,XY,+der(21)t(3;21)(p26.1q22.12)dn	PT21	PT21	24
10	47,XY,+der(21)t(8;21)	PT21	PT21	This report
11	47,XX,+der(21),t(15;21)(q26.2;q22.1)mat	PT21	PT21	8 and 25
12	47,XX,+der(21)(pter → q21.1::q21.3 → qter).ish der(21)(wcp21+,VIJ2yRM2029+)	PT21	PT21	7
13	47,XY,+der(21)t(10;21)(21pter → 21q21::10q26 → 10qter)mat	PT21	PT21	This report
14	46,XX, dup(21)(pter → q13::q21.3 → qter)	PT21	PT21	This report
15	46,XX,−11,+der(11)t(11;21)(q24;q21)	PT21	PT21	This report
16	46,XX,−10,+der(10),t(10;21)(10pter → 10q26::21q21 → 21qter)mat	PT21	PT21	7
17	46,XX,der(21)(p11.2 → qter::q22.11 → qter)	PT21	PT21	This report
18	46,XY,rec(21)dup(21q)inv(21)(p11q21)	PT21	PT21	This report
19	inv dup(21)(q22.3q22.1)	PT21	PT21	This report
20	46,XY, der(22)(t21;22)(q22.1;q11.2)	PT21	PT21	This report
21	dup(21q)	PT21	PT21	This report
22	46,XY,dup(21)(q22.3)	PT21	PT21	This report
23	46,XX,−21,+dir dup(21)(q22.2q22.3)	PT21	PT21	8
24	46,XX,−5,+der(5)t(5;21)(p15;q22)	PT21	PT21	This report
25	46,XX,−21,+der(21)t(21;21)(p13;q22.2)	PT21	PT21	8
26	45,XX,t(21;21)(q11;p11)	N	N	This report
27	47,XX,+i(18)(p10)	N	N	This report
28	46,XX	N	N	This report
29	46,XY	N	N	This report
30	46,XX	N	N	This report
31	46,XX,−21,+der(15)t(15;21)(q13;q22.1)	PM21	PM21	26
32	46,XY,−21,+del(21)(q11.1q21)	PM21	PM21	27, 28
33	45,XY,der(2)(2pter → 2q37::21q21 → 21qter)mat,−21	PM21	PM21	This report
34	45,XX,−21/46,XX,21q-	PM21	PM21	This report
35	46,XX,del(21q)	PM21	PM21	This report
36	46,XX,der(21)t(3p;21q)	PM21	PM21	This report
37	46,XX	PM21	PM21	29
38	46,XX,del(21)(q21)	PM21	PM21	This report
39	46,XX,del(21)(q22.3)	PM21	PM21	This report
40	46,XY,der(21)t(10;21)(21pter → 21q22::10q24 → 10qter)mat	PM21	PM21	This report
42	47,XXX.ish del(21q22)(AML1x1)	PM21	PM21	This report