A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach

[1] Cho AR(2009)Partial trisomy of chromosome 18q11.2-q12: a case report Korean J Pedatr 52 1171-1174

[2] Kim HR(2013)Partial trisomy 18q and epileptic spasms induced by eating associated with bilateral opecular dysplasia Am J Med Genet Part A 161A 1194-1195

[3] Lee MK(2010)Somatic genome variations in health and disease Curr Genomics 11 387-96

[4] Yun SW(2010)A de novo duplication of Xp11.22–p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome Am J Med Gent Part A 152A 1735-1740

[5] Lee JJ(2013)Clinical outcomes and counselling issues regarding partial trisomy of terminal Xp in a child with developmental delay Sultan Qaboos Univ Med Jl 13 311-317

[6] d’Orsi G(2011)Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication Am J Med Genet A 155A 885-91

[7] Pascarella MG(2013)7q36 deletion and 9p22 duplication: effects of a double imbalance Mol Cytogenet 6 2-46

[8] Pansini A(2010)Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes Mol Psychiatry 15 637-968

[9] Buonadonna AL(2010)High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility Mol Psychiatry 15 954-58

[10] Trivisano M(2001)Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome Am J Hum Genet 68 848-912

[1] Cho AR(2009)Partial trisomy of chromosome 18q11.2-q12: a case report Korean J Pedatr 52 1171-1174

[2] Kim HR(2013)Partial trisomy 18q and epileptic spasms induced by eating associated with bilateral opecular dysplasia Am J Med Genet Part A 161A 1194-1195

[3] Lee MK(2010)Somatic genome variations in health and disease Curr Genomics 11 387-96

[4] Yun SW(2010)A de novo duplication of Xp11.22–p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome Am J Med Gent Part A 152A 1735-1740

[5] Lee JJ(2013)Clinical outcomes and counselling issues regarding partial trisomy of terminal Xp in a child with developmental delay Sultan Qaboos Univ Med Jl 13 311-317

[6] d’Orsi G(2011)Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication Am J Med Genet A 155A 885-91

[7] Pascarella MG(2013)7q36 deletion and 9p22 duplication: effects of a double imbalance Mol Cytogenet 6 2-46

[8] Pansini A(2010)Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes Mol Psychiatry 15 637-968

[9] Buonadonna AL(2010)High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility Mol Psychiatry 15 954-58

[10] Trivisano M(2001)Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome Am J Hum Genet 68 848-912