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Table 2 Breakpoints in chromosome 5 translocation carriers and clinical features

From: A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5

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 Zhang HG et al., 2015 [5]
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 Zhang HG et al., 2015 [5]
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 Zhang HG et al., 2015 [5]
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 Zhang HG et al., 2015 [5]
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]
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Molecular Cytogenetics

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