Table 2 Breakpoints in chromosome 5 translocation carriers and clinical features
Case | Karyotype | Breakpoints | Clinical findings | Reference |
|---|---|---|---|---|
1 | t(1;5) | 1p32;5q31 | Severe oligoasthenoteratozoospermia | Peschka et al., 1999 [27] |
2 | t(1;5) | 1p31.1;5q33.3 | Normozoospermia | Brugnon et al., 2006 [28] |
3 | t(1;5) | 1p22;5q11 | Malformed/stillborn children | Meza-Espinoza et al., 2008 [29] |
4 | t(1;5) | 1q36.1;5q31 | 2 miscarriage, PGD and 2 term delivery | Ikuma et al., 2015 [4] |
5 | t(1;5) | 1q41;5q33 | Miscarriage and PGD | Kyu Lim et al., 2004 [30] |
6 | t(1;5) | 1qter;5p14 | Recurrent miscarriage | Goud et al., 2009 [31] |
7 | t(2;5) | 2p25;5p12 | Teratozoospermia, Habitual abortions | Vegetti et al., 2000 [32] |
8 | t(2;5) | 2p21;5p15 | Recurrent spontaneous abortion | Gada Saxena et al., 2012 [33] |
9 | t(2;5) | 2p13;5p15 | Recurrent fetal wastage | Fryns et al., 1998 [34] |
10 | t(2;5) | 2p11;5q15 | Abortion | Templado et al., 1988 [35] |
11 | t(2;5) | 2p11;5q31 | Recurrent abortion | Portnoï et al., 1988 [36] |
12 | t(2;5) | 2q12;5q35.3 | Recurrent pregnancy loss | Kochhar et al., 2013 [22] |
13 | t(2;5) | 2q13.1;5q35.1 | 6 miscarriage, PGD and 1 term delivery | Ikuma et al., 2015 [4] |
14 | t(3;5) | 3p27;5p14 | 4 fetal losses | Adamoli et al., 1986 [37] |
15 | t(3;5) | 3q13;5q35 | Repeated abortions | Venkateshwari et al., 2011 [21] |
16 | t(3;5) | 3q26.2;5p15.1 | Miscarriage | Sugiura-Ogasawara et al., 2008 [38] |
17 | t(3;5) | 3q27;5p15 | Normospermic, A boy 46,XY,t(3;5)pat | Vozdova et al., 2013 [11] |
18 | t(3;5) | 3q28;5p13 | Recurrent spontaneous abortion | Gada Saxena et al., 2012 [33] |
19 | t(3;5) | 3q29;5q13 | Multiple abortions | Castle et al., 1988 [39] |
20 | t(3;5) | 3q29;5q33.2 | PGD | Findikli et al., 2003 [40] |
21 | t(4;5) | 4p15.2;5p12 | Normozoospermia | Wiland et al., 2007 [41] |
22 | t(4;5) | 4p15;5q12 | Oligozoospermia | Perrin et al., 2010 [42] |
23 | t(4;5) | 4p14;5q13.1 | recurrent miscarriage | Pundir et al., 2016 [43] |
24 | t(4;5) | 4q21;5p15 | Habitual miscarriage | Li et al., 2012 [23] |
25 | t(4;5) | 4q21;5p15 | Recurrent spontaneous abortion | Zhang M et al., 2015 [44] |
26 | t(4;5) | 4q21;5q11.2 | Severe oligoasthenoteratozoospermia | Peschka et al., 1999 [27] |
27 | t(4;5) | 4q22;5q35 | 2 fetal losses | Adamoli et al., 1986 [37] |
28 | t(4;5) | 4q25;5p15.2 | 4 abortions | Ghazaey et al., 2015 [45] |
29 | t(4;5) | 4q31;5p15 | Recurrent spontaneous abortions | Zhang et al., 2011 [46] |
30 | t(4;5) | 4q31;5q13 | normozoospermia | Huang et al., 2007 [47] |
31 | t(4;5) | 4q32;5q14 | Oligoasthenoteratozoospermia | Dohle et al., 2002 [48] |
32 | t(4;5) | 4q32;5q14 | Miscarriage | Dul et al., 2012 [49] |
33 | t(4;5) | 4q35;5p15 | Recurrent miscarriages | Dutta et al., 2011 [50] |
34 | t(5;6) | 5p15.3;6q13 | recurrent abortion | Kiss et al., 2009 [51] |
35 | t(5;6) | 5p13.3;6q27 | Recurrent spontaneous abortion | Gada Saxena et al., 2012 [33] |
36 | t(5;6) | 5q21;6q33 | Recurrent fetal wastage | Fryns et al., 1998 [34] |
37 | t(5;6) | 5q33.1;6p11.2 | Miscarriage | Sugiura-Ogasawara et al., 2008 [38] |
38 | t(5;6) | 5q35;6p21.3 | PGD | Ko et al., 2010 [52] |
39 | t(5;7) | 5p15.2;7p14 | Recurrent spontaneous abortion | Gada Saxena et al., 2012 [33] |
40 | t(5;7) | 5p13;7p15 | Recurrent pregnancy loss | Kochhar et al., 2013 [22] |
41 | t(5;7) | 5p13;7p15 | Spontaneous abortion | Stephenson et al., 2006 [53] |
42 | t(5;7) | 5p11;7q11 | 8 abortions | Al-Hussain et al., 2000 [54] |
43 | t(5;7) | 5q13;7p15.1 | 2 miscarriages | Estop et al., 1995 [55] |
44 | t(5;7) | 5q21;7q32 | Normozoospermia | Cifuentes et al., 1999 [56] |
45 | t(5;7) | 5q33;7q22 | Miscarriage and PGD | Kyu Lim et al., 2004 [30] |
46 | t(5;8) | 5p14;8q22 | Asthenozoospermia | Godo et al., 2013 [7] |
47 | t(5;8) | 5q22;8q24.1 | Oligoasthenoteratozoospermia | Meschede et al., 1998 [57] |
48 | t(5;8) | 5q22.1;8q23.2 | PGD | Ko et al., 2010 [52] |
49 | t(5;8) | 5q23.1;8p23.2 | 4 miscarriage,1 term delivery | Ikuma et al., 2015 [4] |
50 | t(5;8) | 5q33.3;8q11.21 | Recurrent miscarriage | Pundir et al., 2016 [43] |
51 | t(5;8) | 5q33;8q13 | Normozoospermia | Blanco et al., 1998 [58] |
52 | t(5;8) | 5q33;8q13 | Normozoospermia | Estop et al., 2000 [59] |
53 | t(5;8) | 5q33;8q13 | Normozoospermia | Godo et al., 2013 [7] |
54 | t(5;8) | 5q33;8q13 | Normozoospermia | Anton et al., 2008 [60] |
55 | t(5;8) | 5q35.1;8p11.2 | Astenozoospermia | Anton et al., 2008 [60] |
56 | t(5;8) | 5q35.3;8q22.1 | Recurrent fetal wastage | Fryns et al., 1998 [34] |
57 | t(5;9) | 5p15.1;9q22.1 | Normospermic, Primary infertility | Vozdova et al., 2013 [11] |
58 | t(5;9) | 5p13;9q22 | PGD | Zhang et al., 2014 [61] |
59 | t(5;9) | 5q10;9q10 | Recurrent spontaneous abortions | Rouen et al., 2017 [62] |
60 | t(5;9) | 5q21;9q34 | 2 fetal losses | Adamoli et al., 1986 [37] |
61 | t(5;9) | 5q23.2;9q22.3 | Spontaneous abortion | Stephenson et al., 2006 [53] |
65 | t(5;9) | 5q23.3;9p24 | Recurrent miscarriage | Iyer et al., 2007 [63] |
63 | t(5;10) | 5p13.3;10p12.2 | PGD | Ko et al., 2010 [52] |
64 | t(5;10) | 5q22;10q11.2 | PGD | Ko et al., 2010 [52] |
65 | t(5;10) | 5q22;10q22 | Miscarriage | Sugiura-Ogasawara et al., 2008 [38] |
66 | t(5;10) | 5q34;10p12.1 | Recurrent spontaneous abortions | Rouen et al., 2017 [62] |
67 | t(5;10) | 5q35;10q22 | Spontaneous abortions | Bourrouillou et al., 1986 [64] |
68 | t(5;10) | 5q35;10q24 | Recurrent miscarriage | Goud et al., 2009 [31] |
69 | t(5;11) | 5p14;11p15 | Normozoospermia | |
70 | t(5;12) | 5p15.1;12p12.2 | Spontaneous abortion | Stephenson et al., 2006 [53] |
71 | t(5;12) | 5p15.1;12q21 | Infertility | Ravel et al., 2006 [65] |
72 | t(5;12) | 5p14;12q15 | Recurrent spontaneous abortion | Gada Saxena et al., 2012 [33] |
73 | t(5;12) | 5q11;12p13 | 10 abortions | Al-Hussain et al., 2000 [54] |
74 | t(5;12) | 5q13;12q13 | Recurrent spontaneous abortions | Rouen et al., 2017 [62] |
75 | t(5;12) | 5q35.1;12q24.1 | Repeated miscarriage | Goddijn et al., 2004 [66] |
76 | t(5;13) | 5p13;13q34 | Neonatal death | Zhang et al., 2006 [67] |
77 | t(5;13) | 5q11;13q33 | 3 spontaneous abortions | Pellestor et al., 1989 [68] |
78 | t(5;13) | 5q13;13q12 | Normozoospermia | |
79 | t(5;13) | 5q15;13p12 | Oligozoospermia | Matsuda et al., 1992 [69] |
80 | t(5;13) | 5q21;13q12.1 | 2 miscarriage, no conception | Ikuma et al., 2015 [4] |
81 | t(5;13) | 5q33;13q12 | Infertility | Mikelsaar et al., 2012 [20] |
82 | t(5;13) | 5q34;13q33 | Recurrent miscarriage | Iyer et al., 2007 [63] |
83 | t(5;14) | 5p13;14q11.2 | PGD | Zhang et al., 2014 [61] |
84 | t(5;14) | 5p13;14q23 | Spontaneous abortions | Bourrouillou et al., 1986 [64] |
85 | t(5;14) | 5q11.2;14q32.1 | Spontaneous abortion | Stephenson et al., 2006 [53] |
86 | t(5;15) | 5p15.2;15q21.1 | PGD | Ko et al., 2010 [52] |
87 | t(5;15) | 5p13.3;15q15.3 | PGD | Ko et al., 2010 [52] |
88 | t(5;15) | 5q35;15q22 | Pregnancy of PGD | Escudero et al., 2003 [70] |
89 | t(5;15) | 5q35;15q26.2 | Abnormal semen, 2 IVF-ET | Vozdova et al., 2013 [11] |
90 | t(5;16) | 5q13; 16p13.1 | Normozoospermia | Haapaniemi Kouru et al., 2017 [71] |
91 | t(5;16) | 5q33;16p13 | Recurrent pregnancy loss | Kochhar et al., 2013 [22] |
92 | t(5;16) | 5q33.3;16p13.3 | Recurrent miscarriages | Dutta et al., 2011 [50] |
93 | t(5;17) | 5q13.2;17q21.2 | infertility | Mau et al., 1997 [72] |
94 | t(5;17) | 5q31;17p13 | Normozoospermia | Anton et al., 2008 [60] |
95 | t(5;17) | 5q33.1;17q25.3 | Repeated miscarriage | Goddijn et al., 2004 [66] |
96 | t(5;18) | 5p15;18q11.2 | Spontaneous abortion | |
97 | t(5;18) | 5p15;18q21 | Malformed children | Balkan et al., 1983 [73] |
98 | t(5;18) | 5q15;18q22 | Spontaneous abortions | Soh et al., 1984 [74] |
99 | t(5;18) | 5q15;18q23 | 2 fetal loss | Smith et al., 1990 [75] |
100 | t(5;18) | 5q31.1;18q21.1 | PGD | Ko et al., 2010 [52] |
101 | t(5;19) | 5q15;19p12 | Normospermic, A boy 46,XY,t(5;19)pat | Vozdova et al., 2013 [11] |
102 | t(5;20) | 5q22;20p13 | Asthenozoospermia, Habitual abortions | Vegetti et al., 2000 [32] |
103 | t(5;20) | 5q13;20q12 | Normozoospermia | |
104 | t(5;20) | 5q22;20p12 | Recurrent fetal wastage | Fryns et al., 1998 [34] |
105 | t(5;20) | 5q31;20p13 | Azoospermia | Poli et al., 2016 [18] |
106 | t(X;5) | Xp22.1;5p11 | Azoospermia | Peschka et al., 1999 [27] |