Patient with Dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature

Stankiewicz, 2010, Structural variation in the human genome and its role in disease, Annu. Rev. Med., 61, 437, 10.1146/annurev-med-100708-204735 Lupski, 1998, Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits, Trends Genet., 14, 417, 10.1016/S0168-9525(98)01555-8 Ensenauer, 2003, Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients, Am. J. Hum. Genet., 73, 1027, 10.1086/378818 Somerville, 2005, Severe expressive-language delay related to duplication of the Williams-Beuren locus, N. Engl. J. Med., 353, 1694, 10.1056/NEJMoa051962 Potocki, 2000, Molecular mechanism for duplication 17p11.2 – the homologous recombination reciprocal of the Smith-Magenis microdeletion, Nat. Genet., 24, 84, 10.1038/71743 Franco, 2010, A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion, Eur. J. Hum. Genet., 18, 258, 10.1038/ejhg.2009.164 Brunetti-Pierri, 2008, Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities, Nat. Genet., 40, 1466, 10.1038/ng.279 Ballif, 2008, Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication, Mol. Cytogenet., 1, 8, 10.1186/1755-8166-1-8 Weiss, 2008, Association between microdeletion and microduplication at 16p11.2 and autism, N. Engl. J. Med., 358, 667, 10.1056/NEJMoa075974 Hannes, 2009, Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant, J. Med. Genet., 46, 223, 10.1136/jmg.2007.055202 Schubert, 2009, The genomic basis of the Williams-Beuren syndrome, Cell. Mol. Life Sci., 66, 1178, 10.1007/s00018-008-8401-y Van der Aa, 2009, Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome, Eur. J. Med. Genet., 52, 94, 10.1016/j.ejmg.2009.02.006 Jacquemont, 2011, Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus, Nature, 478, 97, 10.1038/nature10406 Tatton-Brown, 2004, Clinical features of NSD1-positive Sotos syndrome, Clin. Dysmorphol., 13, 199, 10.1097/00019605-200410000-00001 Sotos, 1964, Cerebral gigantism in childhood. A syndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder, N. Engl. J. Med., 271, 109, 10.1056/NEJM196407162710301 Kurotaki, 2002, Haploinsufficiency of NSD1 causes Sotos syndrome, Nat. Genet., 30, 365, 10.1038/ng863 Kurotaki, 2005, Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats, Hum. Mol. Genet., 14, 535, 10.1093/hmg/ddi050 Hunter, 1977, A ‘new’ syndrome of mental retardation with characteristic facies and brachyphalangy, J. Med. Genet., 14, 430, 10.1136/jmg.14.6.430 Hunter, 2005, The Hunter-McAlpine syndrome results from duplication 5q35-qter, Clin. Genet., 67, 53, 10.1111/j.1399-0004.2005.00378.x Kirchhoff, 2007, MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions, Eur. J. Med. Genet., 50, 33, 10.1016/j.ejmg.2006.10.002 Chen, 2006, Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q, Am. J. Med. Genet. A, 140, 1594, 10.1002/ajmg.a.31329 Zhang, 2011, Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age, Am. J. Med. Genet. A, 10.1002/ajmg.a.33769 Colella, 2007, QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data, Nucleic Acids Res., 35, 2013, 10.1093/nar/gkm076 Turner, 2008, Germline rates of de novo meiotic deletions and duplications causing several genomic disorders, Nat. Genet., 40, 90, 10.1038/ng.2007.40 Stankiewicz, 2002, Genome architecture, rearrangements and genomic disorders, Trends Genet., 18, 74, 10.1016/S0168-9525(02)02592-1 Tatton-Brown, 2005, Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations, Am. J. Hum. Genet., 77, 193, 10.1086/432082 Kurotaki, 2003, Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion, Hum. Mutat., 22, 378, 10.1002/humu.10270 Huang, 1998, Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators, EMBO J., 17, 3398, 10.1093/emboj/17.12.3398 Lucio-Eterovic, 2010, Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function, Proc. Natl. Acad. Sci. U.S.A., 107, 16952, 10.1073/pnas.1002653107 Visser, 2005, Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion, Am. J. Hum. Genet., 76, 52, 10.1086/426950 Migdalska, 2012, Generation of the Sotos syndrome deletion in mice, Mamm, Genome, 23, 749