A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature
Abstract
:1. Introduction
2. Materials and Methods
2.1. Clinical Evaluation
2.2. Cytogenetic Analyses
2.3. MLPA Technique
2.4. Array-CGH Technique
3. Results
Clinical Presentation
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Conflicts of Interest
References
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No | Reference | Chromosome 4 Region | Type of Anomaly |
---|---|---|---|
1 | Mattei et al., 1979 [18] | q12–q13 | IH, t(2;4) mat |
2 | Zollino et al., 1995 [19] | q13.3–q22.2 | DN, dup(4)(q13.3q22.2) |
3 | Halal et al., 1991 [20] | q23–q27 | DN, dup(4)(q23q27) |
4 | Jeziorowska et al., 1993 [21] | q21.3–q31.3 | DN, dup(4)(q21.3q31.3) |
5 | Fryns, 1980 [22] | q25–q31 | DN, dup(4)(q25q31) |
6 | Vogel et al., 1975 [23] | q22–q34 | DN, dup(4)(q22q34) |
7 | Dutrillaux et al., 1975 [24] | q22–q34 | DN, dup(4)(q22q34) |
8 | Taylor et al., 1977 [25] | q26–q35 | DN, dup(4)(q26q35) |
9 | Goodman et al., 1997 [26] | q31.1–q32.3 | IH, dup(4)(q31.1q32.3) |
10 | Muraki et al., 1997 [27] | q25–q31.3 | DN, dup(4)(q25q31.3) |
11 | Shashi et al., 1999 [28] | q12–q13 | DN, dup(4)(q12q13) |
12 | Guillen Navarro et al., 1996 [29] | q21–q28 | DN, dup(4)(q21q28) |
13 | Otsuka et al., Case 1, 2005 [30] | q31.22–q35.2 | IH, dup(4)(q31.22q35.2) |
14 | Otsuka et al., Case 2, 2005 [30] | q31.22–q35.2 | IH, dup(4)(q31.22q35.2) |
15 | Lundin et al., 2002 [31] | q27–q35 | DN, t(4;7)(q27;p22) |
16 | Mikelsaar et al., 1996 [32] | q25–qter | DN, t(4;22)(q25;p11) |
17 | Cui et al., 2006 [33] | q27–q35 | DN, t(4;5)(q27;q35) |
18 | Maltby et al., 1999 [34] | q31–q33 | IH, dup(4)(q31q33) |
19 | Assawamakin et al., 2012 [35] | q13.2–q22.1 | IH, der(8)(20qter–>20q12::4q22.1–>q21.21::4q13.3–>4q13.2::8q22.1–>8p11.12::8q22.3–>qter),der(20)(20pter –>20q12::4q13.3–>q21.21::8q22.3–>q22.1::8p11.12–>pter) |
20 | Angulo et al., 1984 [36] | q31–qter | IH, t(4;12)(q31;q24) |
21 | Watanabe et al., 1977 [37] | q33–qter | IH, t(4;13)(q33;q33) |
22 | Schrott et al., 1974 [6] | q26–qter | IH, t(4;13)(q26;q34) |
23 | Jenkins et al., 1975 [38] | q31–qter | DN, t(4;13)(q31;q14) |
24 | Zhang et al., 2009 [7] | q25–qter | IH, t(4;10)(q26;q26.3) |
25 | Cernakova et al., 2006 [9] | q28–q35.2 | DN, dup(4)(q28q35.2) |
26 | Horbinski et al., 2008 [39] | q35–qter | DN, t(4;18)(q35;q23) |
27 | Rinaldi et al., 2005 [40] | q24–q35 | DN, t(4;14)(q24;p12) |
28 | Kadotani et al., 1981 [41] | q32–qter | IH, t(4;9)(q23;p24) |
29 | Issa et al., 1976 [42] | q31–qter | IH, t(4;9)(q31;q34) |
30 | Collia et al., 2012 [43] | q12–q22 | DN, dup(4)(q11q22) |
31 | Baccichetti et al., 1975 [44] | q32–qter | IH, t(4;21)(q32;q22) |
32 | Patel et al., 2006 [45] | q25–qter | IH, t(4;18)(q25;q22) |
33 | Cervenka et al., 1976 [46] | q25–qter | IH, t(X;4)(q27;q25) |
34 | Biederman and Bowen 1976 [47] | q21–qter | IH, t(2;4)(p25;q21) |
35 | Bonfante et al., case A, 1979 [48] | q27–qter | IH, t(4;18)(q27;p11) |
36 | Bonfante et al., case B, 1979 [48] | q27–qter | IH, t(4;18)(q27;p11) |
37 | Škrlec et al., 2014 [49] | q31.3–qter | IH, t(2;4)(p25.1;q31.3) |
38 | Gorukmez et al., 2014 [50] | q21–q35 | DN, dup(4)(q21q35) |
39 | Vargas Machuca et al., 2016 [51] | q21–qter | IH, t(4;20)(q21;q13.1) |
40 | El-Ruby et al., 2007 [52] | q25–qter | IH, t(4;21)(q25;q22) |
41 | Anneren et al., 1984 [53] | q31–qter | IH, t(4;8)(q31;p23) |
42 | Carrascosa Romero et al., 2008 [54] | q31–q35 | DN, dup(4)( q31q35) |
43 | Bellucco et al., 2018 [55] | q32.1–q35.2 | 47,XX,+der(21)t(4; 21)(q32.1;q21.2)mat. arr[GRCh37/hg19] 4q32. 1q35.2 (158907036_190957460)x3,21q11.2q21.2(15016486_25605895)x3 |
44 | Lin et al., 2018 [56] | q32.3–qter | ND, t(4;5)(q32.3;p14.2) |
45 | Mohamed et al., 2018 [57] | q32.1–q35.2 | DN 46,XX,add1(q44) |
46 | Shenoy et al., 2018 [58] | q27q35.2 | IH, t(4;21)(q27;q22) |
47 | Thapa et al., case A, 2014 [59] | q32.1–q35.2 | ND, dup(4)(q32.1q35.2) |
48 | Thapa et al., case B, 2014 [59] | q32.2–q34.3 | ND,dup(4)(q32.2q34.3) |
49 | Zaki et al., 2019 [60] | q35.2 | DN, dup(4)(q35.2) |
50 | This case | q26–qter | IH, t(4;10)(q26;q26.3) |
No | Reference | Chromosome 4 Region | a | b | c | d | e | f | g | h | i | j | k |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | Mattei et al., 1979 [18] | q12–q13 | + | + | + | + | − | + | − | − | − | − | − |
2 | Zollino et al., 1995 [19] | q13.3–q22.2 | − | + | − | − | − | − | + | − | − | − | − |
3 | Halal et al., 1991 [20] | q23–q27 | + | + | + | + | − | − | − | − | − | + | − |
4 | Jeziorowska et al., 1993 [21] | q21.3–q31.3 | + | + | + | + | + | + | + | + | + | − | + |
5 | Fryns, 1980 [22] | q25–q31 | + | + | − | − | + | + | − | + | − | − | − |
6 | Vogel et al., 1975 [23] | q22–q34 | + | + | − | + | + | + | + | + | + | − | + |
7 | Dutrillaux et al., 1975 [24] | q22–q34 | + | + | + | + | + | + | + | + | + | − | + |
8 | Taylor et al., 1977 [25] | q26–q35 | + | + | + | + | + | + | + | + | − | + | ND |
9 | Goodman et al., 1997 [26] | q31.1–q32.3 | + | + | − | + | − | ND | ND | − | − | + | − |
10 | Muraki et al., 1997 [27] | q25–q31.3 | + | + | − | − | − | − | − | + | − | − | − |
11 | Shashi et al., 1999 [28] | q12–q13 | + | + | + | + | + | − | − | + | − | − | − |
12 | Guillen Navarro et al., 1996 [29] | q21–q28 | + | + | − | + | + | ND | + | + | + | − | − |
13 | Otsuka et al., Case 1, 2005 [30] | q31.22–q35.2 | + | + | + | + | + | + | + | + | + | − | + |
14 | Otsuka et al., Case 2, 2005 [30] | q31.22–q35.2 | + | + | + | + | + | + | + | + | + | − | + |
15 | Lundin et al., 2002 [31] | q27–q35 | + | + | + | + | + | ND | − | − | + | − | − |
16 | Mikelsaar et al., 1996 [32] | q25–qter | + | + | + | + | + | + | − | + | − | − | − |
17 | Cui et al., 2006 [33] | q27–q35 | + | + | − | + | + | ND | − | − | + | − | − |
18 | Maltby et al., 1999 [34] | q31–q33 | − | − | − | − | − | ND | − | − | − | − | − |
19 | Assawamakin et al., 2012 [35] | q13.2–q22.1 | − | + | + | − | − | ND | − | − | − | + | − |
20 | Angulo et al., 1984 [36] | q31–qter | + | + | − | + | + | + | ND | + | − | − | + |
21 | Watanabe et al., 1977 [37] | q33–qter | + | + | + | − | + | ND | − | + | ND | − | + |
22 | Schrott et al., 1974 [6] | q26–qter | + | + | + | − | − | ND | + | − | ND | − | + |
23 | Jenkins et al., 1975 [38] | q31–qter | + | + | − | + | + | ND | − | + | ND | + | − |
24 | Zhang et al., 2009 [7] | q25–qter | + | + | + | + | + | + | + | + | − | − | − |
25 | Cernakova et al., 2006 [9] | q28–q35.2 | + | + | + | + | + | − | + | + | − | + | − |
26 | Horbinski et al., 2008 [39] | q35–qter | + | + | + | + | + | − | − | + | − | + | − |
27 | Rinaldi et al., 2005 [40] | q24–q35 | + | + | + | ND | + | ND | + | + | + | + | + |
28 | Kadotani et al., 1981 [41] | q32–qter | + | ND | + | ND | + | ND | + | + | + | ND | ND |
29 | Issa et al., 1976 [42] | q31–qter | + | + | − | ND | + | ND | − | + | − | − | ND |
30 | Collia et al., 2012 [43] | q12–q22 | − | − | − | + | + | ND | − | + | − | − | − |
31 | Baccichetti et al., 1975 [44] | q32–qter | + | + | + | − | + | − | + | + | − | ND | − |
32 | Patel et al., 2006 [45] | q25–qter | + | + | + | ND | + | ND | + | + | + | − | + |
33 | Cervenka et al., 1976 [46] | q25–qter | + | + | + | + | + | − | − | + | + | − | + |
34 | Biederman and Bowen, 1976 [47] | q21–qter | + | + | + | ND | + | + | + | + | + | − | ND |
35 | Bonfante et al., case A, 1979 [48] | q27–qter | + | + | − | − | − | − | + | + | − | + | − |
36 | Bonfante et al., case B, 1979 [48] | q27–qter | + | + | − | + | + | − | − | + | − | − | − |
37 | Škrlec et al., 2014 [49] | q31.3–qter | − | + | − | + | − | ND | ND | + | − | − | − |
38 | Gorukmez et al., 2014 [50] | q21–q35 | + | + | + | − | + | + | + | + | + | + | + |
39 | Vargas Machuca et al., 2016 [51] | q21–qter | + | ND | + | ND | + | ND | + | + | − | + | − |
40 | El-Ruby et al., 2007 [52] | q25–qter | + | + | + | − | + | − | − | + | + | − | − |
41 | Anneren et al., 1984 [53] | q31–qter | + | + | + | + | + | ND | − | + | − | − | − |
42 | Carrascosa Romero et al., 2008 [54] | q31–q35 | − | + | + | ND | + | + | + | + | − | − | + |
43 | Bellucco et al., 2018 [55] | q32.1–q35.2 | + | + | + | − | + | − | − | − | − | − | − |
44 | Lin et al., 2018 [56] | q32.3–qter | ND | + | ND | ND | ND | ND | ND | ND | + | + | + |
45 | Mohamed et al., 2018 [57] | q32.1–q35.2 | + | + | + | − | − | ND | + | + | − | − | − |
46 | Shenoy et al., 2018 [58] | q27q35.2 | + | ND | + | ND | ND | ND | + | + | ND | + | + |
47 | Thapa et al., case A, 2014 [59] | q32.1–q35.2 | + | + | ND | − | + | + | + | + | − | ND | − |
48 | Thapa et al., case B, 2014 [59] | q32.2–q34.3 | + | + | ND | − | ND | ND | − | + | + | ND | − |
49 | Zaki et al., 2019 [60] | q35.2 | − | + | + | ND | ND | ND | ND | + | − | − | − |
50 | This case | q26–qter | + | + | + | + | + | + | + | + | − | + | − |
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Popescu, R.; Grămescu, M.; Caba, L.; Pânzaru, M.-C.; Butnariu, L.; Braha, E.; Popa, S.; Rusu, C.; Cardos, G.; Zeleniuc, M.; et al. A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature. Genes 2021, 12, 1957. https://doi.org/10.3390/genes12121957
Popescu R, Grămescu M, Caba L, Pânzaru M-C, Butnariu L, Braha E, Popa S, Rusu C, Cardos G, Zeleniuc M, et al. A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature. Genes. 2021; 12(12):1957. https://doi.org/10.3390/genes12121957
Chicago/Turabian StylePopescu, Roxana, Mihaela Grămescu, Lavinia Caba, Monica-Cristina Pânzaru, Lăcrămioara Butnariu, Elena Braha, Setalia Popa, Cristina Rusu, Georgeta Cardos, Monica Zeleniuc, and et al. 2021. "A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature" Genes 12, no. 12: 1957. https://doi.org/10.3390/genes12121957