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Tableau 1
CNV mis en évidence par les différentes études réalisées par CGH array ou SNP array dans des cohortes de patientes ayant une IOP, montrant le point de cassure proximal identique chez toutes les patientes au niveau du LCRB et le point de cassure distal dans le LCRC ou LCRD.
| Étude | Type d'ACPA | Locus | Type d'anomalie |
|---|---|---|---|
| Aboura et al. (2009) | CGH array génome entier | 1p21.2 (x18) | Perte |
| 5p14.3 | Gain | ||
| 5q13.2 (x2) | Gain | ||
| 6p25.3 (x8 et x15) | Gain et perte | ||
| 14q32.33 (x2) | Perte | ||
| 16p11.2 (x11) | Gain | ||
| 17q12 (x4) | Gain | ||
| Xq28 (x0) | Perte | ||
| Ledig et al. (2010) | CGH array génome entier | 17q23.3 | Perte |
| 8q11.23 | Gain | ||
| 11p15.1 | Gain | ||
| 2q11.2 | Gain | ||
| 6p12.1 | Gain | ||
| Quilter et al. (2010) | CGH array chromosome X | Xp22.31–Xp22.31 (2) | Gain |
| Xp22.11–Xp21.3 | Perte | ||
| Xp11.4–Xp11.4 | Gain | ||
| Xp11.4–Xp11.4 (x2) | Perte | ||
| Xp11.23–Xp11.22 | Perte | ||
| Xq11.23–Xp11.22 | Gain | ||
| Xq12–Xq12 | Gain | ||
| Xq13.3–Xq21.33 | Gain | ||
| Xq22.1–Xq22.2 | Perte | ||
| Xq22.2–Xq22.2 | Gain | ||
| Xq22.1–Xq22.2 | Perte | ||
| Xq22.2–Xq22.2 (x2) | Perte | ||
| Xq23–Xq24 | Perte | ||
| Xq25–Xq25 (x5) | Perte | ||
| Xq26.3–Xq26.3 | Gain | ||
| Dudding et al. (2010) | CGH array chromosome X | Xp22.33 | Gain |
| Xq13.3 | Gain | ||
| Knauff et al., 2011 | SNP array chromosome X | Xq21.31 (x7) | Perte |
| Xq21.31–q21.32 | Perte | ||
| McGuire et al. (2011) | SNP array génome entier | 8q24.13 | Perte |
| 10p15–14 | Perte | ||
| 10q23.31 | Perte | ||
| 10q26.3 | Perte | ||
| 15q25.2 | Perte | ||
| 18q21.32 | Perte | ||
| Norling et al. (2014) | CGH array génome entier | 2p16.2 | Perte |
| 15q26.2 (x2) | Perte | ||
| 3p21.31 | Gain | ||
| 13p13.33 | Perte | ||
| 15q25.2 | Gain | ||
| 19p13.3 | Perte | ||
| Xp22.33 | Gain | ||
| 17q21.2 (x2) | Perte | ||
| 5q31.1 | Gain | ||
| 2p11.2 | Perte | ||
| 2q34 | Perte | ||
| Hyon et al. (2016) | SNP array génome entier | 15q25.2 (x3) | Perte |
| Tšuiko et al. (2016) | CGH array génome entier | 1q43 | Perte |
| 2p13.11 | Perte | ||
| 2q3.1 | Gain | ||
| 6q27 | Gain | ||
| 7p14.3 | Perte | ||
| 9q22.31 | Perte | ||
| 10q26.3 | Perte | ||
| 12q24.31 | Gain | ||
| 15q25.2 | Perte | ||
| 16p13.12 | Gain | ||
| 17q12 | Gain | ||
| 22q13.2 | Perte | ||
| Xp22.31 | Gain | ||
| Xq12 | Gain | ||
| Xq22.1q24 | Perte | ||
| Jaillard et al. (2016) | Génome entier | 8p23.2 | Gain |
| 2q14.2q13.3 | Gain | ||
| 2p23.3 | Gain | ||
| 21q22.3 | Perte | ||
| 13q34 | Gain | ||
| 9p13.3 | Gain | ||
| 1p13.31 | Perte | ||
| 10q26.31 | Gain | ||
| 15q21.1 | Gain | ||
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