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21984752,25927380,27180140,24700761,21684358,24817631,17342157,23042811,26358363,24129071,16460442,18550696,21948486,29341460,34678473,28414775,22766398,21930553,20969982,20308990,18498374,22659343,23299923,21310340,22877836,22213401,24291026,23828844,23266646,17704777,19914906,17546640,28295210,15986041,17506108,15687285,19837989,24502041,22406401,10713889,24815074,19232094,17823971,30836598,20861843,16283679,23711909,21145667,22583828,25182394,20206336,17845869,20132918,22429151,17940555,12624134,16963482,25450604,21412246,26909975,15342697,21984749,23402836,20506354,17480035,18279435,22702362,16141005,22922608,32758661,18413373,22039585,24357492,29549028,32564284,27766957,26174853,26653368,24077551,33159883,22683462,24279999,21866110,22522176,28273668,22283495,21255006,25425167,25691408,26287558,24315824,22450339,34480810,30088696,26511719,22129561,22796527,24095776,23790573,22037486,27761913,16857771,22528406,24853877,18805830,24604040,18405349,20004760,21617255,15060094,21119712,23973723,22083797,23038475,25619353,24127197,25962585,23566840,22581587,24497845,28602932,24631697,23920044,29141583,20578133,30581099,22228006,24297458,29603867,20824207,17545556,34273908,34445777,28492696,20655035,29490426,22840365,24035902,25425358,18317267,32043567,25677961,36688272,22326525,26323392,28612834,15980116,25923336,16283669,23824631,26692240,16169931,24133203,17568414,27708714,29797819,28302064,22887648,24335332,15944227,25956375,22228011,23894085,22241097,17124407,27459995,24986827,23707653,21879160,23315544,23639959,23454270,23637084,21850686,30458662,23051634,26525614,20188345,24909117,28284480,23335808,20808231,21326093,22534424,21722100,23524024,21948691,21496010,26162704,15549396,26332054,17124404,19716111,25900228,18627053,22091964,22009409,22342099,18629884,27884122,21355048,25339597,23709133,25858704,21150890,16900295,25037250,35595445,18698622,24733578,24591035,17333282,33982443,17172942,15887264,23695283,34828266,21964744,26014695,20425835,23634718,25036506,23918747,27577224,23637818,17163532,21204797,27409573,26284580,22065534,18985075,24259393,24146286,22842191,21932318,23632792,18627067,20459802,22258158,23949819,25472632,22290856,22775350,28922055,24075935,25257167,23181561,25908615,22138216,30885185,29618507,27157524,28490568,24203977,32485067,22052655,23369838,22672522,24116836,25106685,19166117,25886057,16097007,28371302,24824396,22228007,21548129,21739574,30264515,21248748,20860070,26742926,24773319,25652354,21990074,24380767,18412111,22693284,18385275,22543972,23886712,27123452,18076117,29609622,26754451,25501453,20503314,15994862,23801353,24775911,30945684,26354035,24123848,15148657,16192703,26003415,20186789,24355400,25449071,23378395,17431892,23603061,22890305,23613140,16080119,24115684,23794269,27519580,22634100,24458433,24510564,22002044,24409323,23897859,23073310,20461109,27164845,27074231,26936114,26153062,19441126,17910064,27655541,24911043,16470742,26114937,27240531,23036992,20358600,19824216,22342433,22673690,28903905,22118737,23985797,26686734,24819041,24326587,23506379,23436495,32698785,8014968,22420221,29053855,26419729,26753516,19557438,23528641,15889415,25503791,28777483,19213022,18629876,22488686,24985125,21834029,24142652,31150357,18047645,23798500,36548033,21269290,28475226,22903743,15338277,23483941,25649377,24782328,30684669,32729108,19443486,31448840,20082459,32715656,25016475,22970919,11903357,23307567,35246213,23895381,26059843,24107884,23007991,21326285,21933724,23183317,22106088,28605748,32381089,21594994,32112660,26637982,21383316,18813332,32489010,33140510,31090057,34056867,30542208,23333879,24115558,24800990,19213034,29297312,25123480,28128410,22106001,33369065,20101693,19876908,18361425,23208842,26829649,23249659,18696223,24478188,19921640,26691666,23520119,29226546,20215773,24668897,12476455,31822863,22494545,30134084,30384002,28397211,28099951,24646727,27500877,23704079,19215059,23107885,20506139,23415449,24055370,24735900,33673493,22118736,35636401,24105367,32618096,30737907,33170561,33619900,22982078,23657910,30614824,25573336,26227573,29691480,34199727,22378287,21739600,29184170,24609917,30518945,26871565,20101695,32820506,16175506,22126752,29258113,24127225,24424125,27853923,18657637,20830801,26689622,28724436,12351418,22883432,19786961,32485717,28464487,24946221,23521658,23657883,22342432,33849037,31705537,27067448,31806026,21693067,19617690,25997743,28636109,23220431,20339384,33724415,15378546,30155906,25679214,27658539,15635075,23441923,16133173,26829739,18301446,25123844,23454271,29681091,23721686,26267847,27470653,16278908,21981782,25326701,25315662,24711034,22482802,21965167,19844265,21925314,19760649,27665090,33913603,18361433,25144152,18058796,24120895,31781162,34553695,30204969,26138022,29271572,24332781,21109226,22227935,21844811,22872102,26327614,22365944,32582378,22320280,9245997,27859473,23245550,21285886,17022071,28899818,34265769,27159028,33922640,22085900,17163525,30541163,23783460,25691423,27355585,35627165,26238956,21271656,22234157,2708149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Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.

El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW. El-Hattab AW, et al. J Med Genet. 2011 Dec;48(12):840-50. doi: 10.1136/jmedgenet-2011-100125. Epub 2011 Oct 8. J Med Genet. 2011. PMID: 21984752 Free article.

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

El-Hattab AW, Schaaf CP, Fang P, Roeder E, Kimonis VE, Church JA, Patel A, Cheung SW. El-Hattab AW, et al. BMC Med Genet. 2015 Mar 14;16:12. doi: 10.1186/s12881-015-0157-2. BMC Med Genet. 2015. PMID: 25927380 Free PMC article.

Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.

Yi Z, Pan H, Li L, Wu H, Wang S, Ma Y, Qi Y. Yi Z, et al. Eur J Med Genet. 2016 Jun;59(6-7):347-53. doi: 10.1016/j.ejmg.2016.05.004. Epub 2016 May 11. Eur J Med Genet. 2016. PMID: 27180140

Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.

Andersen EF, Baldwin EE, Ellingwood S, Smith R, Lamb AN. Andersen EF, et al. Am J Med Genet A. 2014 Jul;164A(7):1795-801. doi: 10.1002/ajmg.a.36524. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700761

9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.

Sismani C, Anastasiadou V, Kousoulidou L, Parkel S, Koumbaris G, Zilina O, Bashiardes S, Spanou E, Kurg A, Patsalis PC. Sismani C, et al. Eur J Med Genet. 2011 Sep-Oct;54(5):e510-5. doi: 10.1016/j.ejmg.2011.05.006. Epub 2011 Jun 17. Eur J Med Genet. 2011. PMID: 21684358

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.

Mignon-Ravix C, Cacciagli P, Choucair N, Popovici C, Missirian C, Milh M, Mégarbané A, Busa T, Julia S, Girard N, Badens C, Sigaudy S, Philip N, Villard L. Mignon-Ravix C, et al. Am J Med Genet A. 2014 Aug;164A(8):1991-7. doi: 10.1002/ajmg.a.36602. Epub 2014 May 9. Am J Med Genet A. 2014. PMID: 24817631

Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.

Renault NK, Dyack S, Dobson MJ, Costa T, Lam WL, Greer WL. Renault NK, et al. Eur J Hum Genet. 2007 Jun;15(6):628-37. doi: 10.1038/sj.ejhg.5201799. Epub 2007 Mar 7. Eur J Hum Genet. 2007. PMID: 17342157

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.

Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW. Bi W, et al. J Med Genet. 2012 Nov;49(11):681-8. doi: 10.1136/jmedgenet-2012-101002. Epub 2012 Oct 5. J Med Genet. 2012. PMID: 23042811

Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males.

Basit S, Malibari OI, Al-Balawi AM, Afzal S, Eldardear AE, Ramzan K. Basit S, et al. Am J Med Genet A. 2016 Jan;170A(1):87-93. doi: 10.1002/ajmg.a.37372. Epub 2015 Sep 11. Am J Med Genet A. 2016. PMID: 26358363

De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.

Lin DS, Chuang TP, Chiang MF, Ho CS, Hsiao CD, Huang YW, Wu TY, Wu JY, Chen YT, Chen TC, Li LH. Lin DS, et al. Gene. 2014 Jan 1;533(1):78-85. doi: 10.1016/j.gene.2013.10.001. Epub 2013 Oct 12. Gene. 2014. PMID: 24129071

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