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Table 2 Chromosome X inactivation in females with int22h1/int22h2 -mediated Xq28 duplication

From: Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

   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.
  1. The preferentially inactive alleles are in bold.