Table 1.

Ninety-Three Constitutional Neocentromere Cases

Chromosome and Neocentromere Site	Rearrangement	Karyotype	Mosaicism (Percent Abnormal Cells)		Reference
			Fibroblasts	Lymphoblasts
1:
1p32-p36.1	Interstitial deletion (paracentric)	Balanced	97	100	Slater et al.106
1q21-q22	Supernumerary ring	Trisomy			Constantinou et al.107 (case 1)
1q23-q32	Interstitial deletion (paracentric)	Balanced		85	Higgins et al.108
1q32-qter	Deletion + inv dup	Trisomy	100		Kucerova et al.109
1q43-q44	Supernumerary ring	Trisomy	70	50	Spiegel et al.110 (case 1)
2:
2p11-p21	Interstitial deletion (paracentric)	Balanced		100	Petit and Fryns111
2q35-q36	Supernumerary ring	Trisomy		28	Pietrzak et al.112
3:
3p23	Interstitial deletion (pericentric)	Balanced	100	100	Maraschio et al.113
3q21.2-qter	Supernumerary inv dup	Tetrasomy	0	87	Gimelli et al.114 (case 3)
3q24	None	Balanced			(Ventura et al.71 (case 2)
3q26.1	Interstitial deletion (pericentric)	Balanced	100	100	Wandall et al.;14 Ventura et al.71 (case 1)
3q26-qter	Supernumerary inv dup	Tetrasomy	100		Batanian et al.115
3q26.2-qter	Supernumerary inv dup	Tetrasomy	2	87	Teshima et al.116 (case 2)
3q26.2-qter	Supernumerary inv dup	Tetrasomy		57	Cockwell et al.117
3q26.2-qter	Supernumerary inv dup	Tetrasomy			Yu et al.118
3q26.2-qter	Supernumerary inv dup	Tetrasomy			Sullivan et al.119
3q27	Deletion + inv dup	Trisomy	100		Papenhausen et al.120
3q27.1-qter	Supernumerary inv dup	Tetrasomy	30	6	Portnoi et al.121
3q27.2-qter	Supernumerary inv dup	Tetrasomy	71		Teshima et al.116 (case 1)
3q28-qter	Supernumerary inv dup	Tetrasomy	100		Barbi et al.122
3q27.3	Supernumerary inv dup	Tetrasomy		87	Gimelli et al.123
4:
4q21	Interstitial deletion (paracentric)	Balanced		75	Grimbacher et al.124
4q21.2	Interstitial deletion (pericentric)	Balanced		100	Warburton et al.13
4q21.3	None	Balanced	100		Amor et al.92
5:
5p14-p15.1	Supernumerary inv dup	Tetrasomy	19		Fritz et al.125
6:
6q16.2-q22.2	Interstitial deletion (paracentric)	Balanced	100		Qin et al.126
6q26	Supernumerary inv dup	Tetrasomy		60	Sala et al.127
8:
8p22-pter	Supernumerary inv dup	Trisomy	50	18	de Pater et al.128
8p23-pter	Supernumerary inv dup	Tetrasomy	21	28	Herry et al.129 (case 2)
8p23.1-pter	Supernumerary inv dup	Tetrasomy	100		Ohashi et al.130
8p23.1-pter	Supernumerary inv dup	Tetrasomy	25		Neumann et al.131
8p23.2	Supernumerary inv dup	Tetrasomy	23–46		Voullaire et al.11 (case 1)
8p23.2	Supernumerary inv dup	Tetrasomy	53–60		Voullaire et al.11 (case 2)
8p distal - pter	Supernumerary inv dup	Tetrasomy	90	100	Velinov et al.132
8q23-qter	Supernumerary inv dup	Tetrasomy	75		Sulcova et al.133
8q23.3-qter	Supernumerary inv dup	Tetrasomy	75		Reddy et al.134
9:
9p23	Supernumerary inv dup	Tetrasomy	100		Depinet et al.9 (case 5); Satinover et al.135 (case 2)
9p23	Deletion + inv dup	Trisomy	100		Depinet et al.9 (case 7); Vance et al.;136 Satinover et al.135 (case 1)
10:
10p14-pter	Supernumerary inv dup	Tetrasomy		100	Levy et al.137
10q11-q23	Interstitial deletion (paracentric)	Balanced	62	80	Depinet et al.9 (case 8)
10q25.2	Interstitial deletion (pericentric)	Balanced	100	100	Voullaire et al.;4 Lo et al.4
11:
11p11.12-11.2	Interstitial deletion (paracentric)	Balanced	76		Chuang et al.15
11q22-qter	Deletion + inv dup	Trisomy	100	100	Depinet et al.9 (case 6)
12:
12p12.3-pter	Supernumerary inv dup	Tetrasomy		50–57	Dufke et al.138
12p13.31-pter	Supernumerary inv dup	Tetrasomy	100		Vermeesch et al.139
13:
13q21	Supernumerary inv dup	Tetrasomy	49		Warburton et al.99 (case C)
13q21	Deletion + inv dup	Trisomy	100	100	Morrissette et al.100
13q21	Supernumerary inv dup	Tetrasomy	14	20	Li et al.101 (case 2)
13q21.3	Deletion + inv dup	Trisomy	100		Warburton et al.99 (case A); Cardone et al.34
13q21.3	Interstitial deletion (paracentric)	Balanced	100		Knegt et al.;16 Cardone et al.34
13q31	Supernumerary inv dup	Tetrasomy	60		Warburton et al.99 (case E)
13q31	Supernumerary inv dup	Tetrasomy	13	13	Barwell et al.102
13q31-q32	Interstitial deletion (paracentric)	Balanced	50–70		Amor et al.103
13q31.3	Supernumerary inv dup	Tetrasomy	11		Tonnies et al.104
13q32	Supernumerary inv dup	Tetrasomy	98	8	Depinet et al.;9 Warburton et al.99 (case F)
13q32	Supernumerary inv dup	Tetrasomy	100	100	Warburton et al.99 (case G)
13q32	Supernumerary inv dup	Tetrasomy	74	25	Warburton et al.99 (Case H)
13q32	Supernumerary inv dup	Tetrasomy	56		Li et al.101 (case 1); Alonso et al.33
13q32.1	Deletion + inv dup	Trisomy	100		Rivera et al.;140 Warburton et al.99 (case B); Alonso et al.33
13q33.1	Supernumerary inv dup × 2	Hexasomy	12–26		Li et al.101 (case 3); Alonso et al.33
13q33.1	Supernumerary inv dup	Tetrasomy		88	Warburton et al.99 (case D); Alonso et al.33
14:
14q32.1-qter	Deletion + inv dup	Trisomy	100		Magnani et al.;141 Sacchi et al.142
15:
15	?	?	100		Li et al.143 (case 11)
15q22	?	?			Constantinou et al.107 (case 2)
15q24	Supernumerary inv dup	Tetrasomy	80		Blennow et al.144 (case B)
15q24-qter	Supernumerary inv dup	Tetrasomy	66	50	Spiegel et al.110 (case 2)
15q24.1	Supernumerary inv dup	Tetrasomy	70	11	Blennow et al.144 (case A); Ventura et al.10 (case 1)
15q24.1-qter	Supernumerary inv dup	Tetrasomy			Tonnies et al.145
15q25	Supernumerary inv dup	Tetrasomy	80		Huang et al.146
15q25-qter	Supernumerary inv dup	Tetrasomy	79		Van den Enden et al.147
15q25-qter	Supernumerary inv dup	Tetrasomy	100		Huang et al.148
15q25.2	Supernumerary inv dup	Tetrasomy			Ventura et al.10 (case 2)
15q25.3-qter	Supernumerary inv dup	Tetrasomy	82		Depinet et al.9 (case 1)
15q25.3-qter	Supernumerary inv dup	Tetrasomy	74		Depinet et al.9 (case 2)
15q25.3-qter	Supernumerary inv dup	Tetrasomy	95		Hu et al.149
15q25.3-qter	Supernumerary inv dup	Tetrasomy		68	Chen et al.150
15q26.1	Supernumerary inv dup	Tetrasomy	50–100	18	Rowe et al.151
15q26.1-qter	Supernumerary inv dup	Tetrasomy	86		Depinet et al.9 (case 3)
15q26.1-qter	Supernumerary inv dup	Tetrasomy		70	Mahjoubi et al.152
16:
16p	Deletion + iso(16q)	Trisomy 16q		100	Tabet et al.153
17:
17q22-q23	Deletion + inv dup	Trisomy	100		Ravnan et al.154
18:
18	?	?	64		Rauch et al.155 (case 4)
20:
20p12.2	Deletion + inv dup	Trisomy	100	100	Lo et al.32; Voullaire et al.156
21:
21q21.1-qter	Deletion + inv dup	Trisomy and deletion 21	100		Barbi et al.157
X:
Xq12	Deletion + asymmetric inv dup	Trisomy and deletion X	82		Kaiser-Rogers et al.158
Xp22.31-pter	Supernumerary inv dup	Tetrasomy	100		Yu et al.159
Y:
Distal Yp	Interstitial deletion?	Deletion Y	15	15	Conde et al.160
Yq11.2	None (or inversion?)	Balanced?	Mosaic		Rivera et al.89
Yq11.2	Deletion + inv dup	Disomy and deletion Y		70	Floridia et al.161
Yq11.2	Deletion + inv dup	Disomy and deletion Y		70	Warburton et al.162
Yq11.2	Deletion + inv dup	Disomy and deletion Y	100		Assumpção et al.163
Yq12	Supernumerary Y	Disomy	5		Bukvic et al.90
Yq12	None	Balanced	94	100	Tyler-Smith et al.91