Table 2 Chromosome X inactivation in females with int22h1/int22h2 -mediated Xq28 duplication
El-Hattab et al. 2011 (Ref [ 7 ] ) | Lannoy et al. 2013 (Ref [ 8 ] ) | Vanmarsenille et al. 2014 (Ref [ 9 ] ) | Mother in family 1 | Mother in family 2 | Family 5 | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mother in family 1 | Mother in family 2 | Mother in family 3 | Mother of case 3 | Mother in family T61 | Mother of AV1 | Youngest sister | Middle sister | Oldest sister | Mother | ||||
Cognitive impairment | + | + | + | - | + | - | + | - | - | + | - | - | |
XCI | Skewed | Skewed | Skewed | Skewed | Random | Skewed | Skewed | Skewed | Random | Random | Skewed | Skewed | |
AR locus | Allele size | 239/248 | 254/242 | 242 | 320/341 | 317/314 | 266/239 | 254/230 | 236/239 | 236/239 | 236/239 | 239/266 | |
Ratio | 89:11 | 88:12 | NA | 80:20 | 68:32 | 89:11 | 99:1 | 95:5 | 50:50 | 62:38 | 80:20 | 88:12 | |
Comments | Both sons with Xq28 duplication had the 248 allele suggesting that the normal chromosome X (239) is preferentially inactivated in the mother | Son with Xq28 duplication had the 242 allele suggesting that the normal chromosome X (254) is preferentially inactivated in the mother | Son with Xq28 duplication had the 317 allele suggesting that the duplicated chromosome X (317) is preferentially inactivated in the mother | Son with Xq28 duplication had the 266 allele suggesting that the duplicated chromosome X (266) is preferentially inactivated in the mother | One son had the 230 allele and the other had the 254 allele | Allele 239 is shared among all suggesting that this allele is the duplicated chromosome and the normal chromosome X (236) is preferentially inactivated in the older sister while the duplicated chromosome X (239) is preferentially inactivated in the mother. | |||||||
FMR1 locus | Allele size | 380/281 | 308/278 | 314/308 | 293/328 | 322/328 | 322:325 | 322 | 322 | 328:322 | |||
Ratio | 87:13 | 87:13 | 94:6 | 93:7 | 95:5 | 50:50 | NA | NA | 81:19 | ||||
Comments | One son had the 281 allele whereas the other had the 380 allele | Son with Xq28 duplication had the 278 allele suggesting that the normal chromosome X (308) is preferentially inactivated in the mother | Son with Xq28 duplication had the 314 allele suggesting that the duplicated chromosome X allele (314) is preferentially inactivated in the mother | Son with Xq28 duplication had the 328 allele suggesting that the normal chromosome X (293) is preferentially inactivated in the mother | Both sons with Xq28 duplication had the 328 allele suggesting that the normal chromosome X (322) is preferentially inactivated in the mother | Allele 322 is shared among all suggesting this allele is the duplicated chromosome and the normal chromosome X (328) is preferentially inactivated in the mother. | |||||||