TY - JOUR AU - Liehr, T. AU - Weise, A. PY - 2007 DA - 2007// TI - Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics JO - Int J Mol Med VL - 19 ID - Liehr2007 ER - TY - BOOK AU - Shaffer, L. G. AU - McGowan-Jordan, J. AU - Schmid, M. PY - 2013 DA - 2013// TI - ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013) PB - S Karger AG CY - Switzerland ID - Shaffer2013 ER - TY - BOOK AU - Choo, K. H. A. PY - 1997 DA - 1997// TI - The centromere PB - Oxford University Press CY - Oxford ID - Choo1997 ER - TY - JOUR AU - Hermsen, M. A. AU - Tijssen, M. AU - Acero, I. H. AU - Meijer, G. A. AU - Ylstra, B. AU - Toral, J. F. PY - 2005 DA - 2005// TI - High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases:ring chromosome 19 and partial duplication 2q JO - Eur J Med Genet VL - 48 UR - https://doi.org/10.1016/j.ejmg.2005.04.009 DO - 10.1016/j.ejmg.2005.04.009 ID - Hermsen2005 ER - TY - JOUR AU - Francke, U. PY - 1978 DA - 1978// TI - Clinical syndromes associated with partial duplications of chromosomes 2 and 3: dup(2p), dup(2q), dup(3p), dup(3q) JO - Birth Defects Orig Artic Ser VL - 14 ID - Francke1978 ER - TY - BOOK AU - Grouchy, J. AU - Turleau, C. PY - 1984 DA - 1984// TI - Clinical atlas of human chromosomes PB - Sons CY - New York ID - Grouchy1984 ER - TY - BOOK AU - Schinzel, A. PY - 1984 DA - 1984// TI - Catalogue of unbalanced chromosome translocations in man PB - de Gruyter CY - New York ID - Schinzel1984 ER - TY - JOUR AU - Dennis, N. R. AU - Neu, R. L. AU - Bannerman, R. M. PY - 1978 DA - 1978// TI - Duplication 2q33 leads to 2q37 due to paternal ins (12;2) translocation JO - Am J Med Genet VL - 1 UR - https://doi.org/10.1002/ajmg.1320010303 DO - 10.1002/ajmg.1320010303 ID - Dennis1978 ER - TY - JOUR AU - Yu, C. W. AU - Chen, H. PY - 1982 DA - 1982// TI - De novo inverted tandem duplication of the long arm of chromosome 2(q34 leads to q37) JO - Birth Defects Orig Artic Ser. VL - 18 ID - Yu1982 ER - TY - JOUR AU - Kyllerman, M. AU - Wahlström, J. AU - Westerberg, B. AU - Gustavson, K. H. PY - 1984 DA - 1984// TI - Delineation of a characteristic phenotype in distal trisomy 2q JO - Helv Paediatr Acta. VL - 39 ID - Kyllerman1984 ER - TY - JOUR AU - Dahoun-Hadorn, S. AU - Bretton-Chappius, B. PY - 1992 DA - 1992// TI - De novo inversion-duplication of 2q35-2qter without growth retardation JO - Ann Genet VL - 35 ID - Dahoun-Hadorn1992 ER - TY - JOUR AU - Romain, D. R. AU - Mackenzie, N. G. AU - Moss, D. AU - Columbano-Green, L. M. AU - Smythe, R. H. AU - Parfitt, R. G. PY - 1994 DA - 1994// TI - Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35) JO - J Med Genet. VL - 31 UR - https://doi.org/10.1136/jmg.31.8.652 DO - 10.1136/jmg.31.8.652 ID - Romain1994 ER - TY - JOUR AU - Fritz, B. AU - Müller-Navia, J. AU - Hillig, U. AU - Köhler, M. AU - Aslan, M. AU - Rehder, H. PY - 1999 DA - 1999// TI - Trisomy 2q35-q37 due to insertion of 2q material into 17q25: clinical, cytogenetic, and molecular cytogenetic characterization JO - Am J Med Genet. VL - 87 UR - https://doi.org/3.0.CO;2-M DO - 3.0.CO;2-M ID - Fritz1999 ER - TY - JOUR AU - Seidahmed, M. Z. AU - Rooney, D. E. AU - Salih, M. A. AU - Basit, O. B. AU - Shaheed, M. M. AU - Abdullah, M. A. PY - 1999 DA - 1999// TI - Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome JO - Am J Med Genet. VL - 85 UR - https://doi.org/3.0.CO;2-W DO - 3.0.CO;2-W ID - Seidahmed1999 ER - TY - JOUR AU - Angle, B. AU - Hersh, J. H. AU - Yen, F. AU - Christensen, K. M. PY - 2000 DA - 2000// TI - Case of partial duplication 2q3 with characteristic phenotype: rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion JO - Am J Med Genet. VL - 91 UR - https://doi.org/3.0.CO;2-H DO - 3.0.CO;2-H ID - Angle2000 ER - TY - JOUR AU - Bonaglia, M. C. AU - Giorda, R. AU - Poggi, G. AU - Raggi, M. E. AU - Rossi, E. AU - Baroncini, A. PY - 2000 DA - 2000// TI - Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q JO - Eur J Hum Genet. VL - 8 UR - https://doi.org/10.1038/sj.ejhg.5200509 DO - 10.1038/sj.ejhg.5200509 ID - Bonaglia2000 ER - TY - JOUR AU - Bird, L. M. AU - Mascarello, J. T. PY - 2001 DA - 2001// TI - Chromosome 2q duplications: case report of a de novo interstitial duplication and review of the literature JO - Am J Med Genet. VL - 100 UR - https://doi.org/3.0.CO;2-5 DO - 3.0.CO;2-5 ID - Bird2001 ER - TY - JOUR AU - Slavotinek, A. M. AU - Boles, D. AU - Lacbawan, F. PY - 2003 DA - 2003// TI - A female infant with duplication of chromosome 2q33 to 2q37.3 JO - Clin Dysmorphol. VL - 12 UR - https://doi.org/10.1097/00019605-200310000-00008 DO - 10.1097/00019605-200310000-00008 ID - Slavotinek2003 ER - TY - JOUR AU - Pietrzak, J. AU - Mrasek, K. AU - Obersztyn, E. AU - Stankiewicz, P. AU - Kosyakova, N. AU - Weise, A. PY - 2007 DA - 2007// TI - Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients JO - J Appl Genet. VL - 48 UR - https://doi.org/10.1007/BF03194675 DO - 10.1007/BF03194675 ID - Pietrzak2007 ER - TY - JOUR AU - Voullaire, L. E. AU - Slater, H. R. AU - Petrovic, V. AU - Choo, K. H. PY - 1993 DA - 1993// TI - A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: activation of a latent centromere? JO - Am J Hum Genet VL - 52 ID - Voullaire1993 ER - TY - JOUR AU - Marshall, O. J. AU - Chueh, A. C. AU - Wong, L. H. AU - Choo, K. H. PY - 2008 DA - 2008// TI - Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution JO - Am J Hum Genet VL - 82 UR - https://doi.org/10.1016/j.ajhg.2007.11.009 DO - 10.1016/j.ajhg.2007.11.009 ID - Marshall2008 ER - TY - BOOK AU - Liehr, T. PY - 2015 DA - 2015// TI - Small supernumerary marker chromosomes ID - Liehr2015 ER - TY - JOUR AU - Liehr, T. AU - Claussen, U. AU - Starke, H. PY - 2004 DA - 2004// TI - Small supernumerary marker chromosomes (sSMC) in humans JO - Cytogenet Genome Res VL - 107 UR - https://doi.org/10.1159/000079572 DO - 10.1159/000079572 ID - Liehr2004 ER - TY - JOUR AU - Murmann, A. E. AU - Conrad, D. F. AU - Mashek, H. AU - Curtis, C. A. AU - Nicolae, R. I. AU - Ober, C. PY - 2009 DA - 2009// TI - Inverted duplications on acentric markers: mechanism of formation JO - Hum Mol Genet VL - 18 UR - https://doi.org/10.1093/hmg/ddp160 DO - 10.1093/hmg/ddp160 ID - Murmann2009 ER - TY - JOUR AU - Wu, D. AU - Chi, H. AU - Shao, M. AU - Wu, Y. AU - Jin, H. AU - Wu, B. PY - 2014 DA - 2014// TI - Prenatal diagnosis of Down syndrome using cell-free fetal DNA in amniotic fluid by quantitative fluorescent polymersase chain reaction JO - Chin Med J (Engl) VL - 127 ID - Wu2014 ER - TY - JOUR AU - Depinet, T. W. AU - Zackowski, J. L. AU - Earnshaw, W. C. AU - Kaffe, S. AU - Sekhon, G. S. AU - Stallard, R. PY - 1997 DA - 1997// TI - Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA JO - Hum Mol Genet VL - 6 UR - https://doi.org/10.1093/hmg/6.8.1195 DO - 10.1093/hmg/6.8.1195 ID - Depinet1997 ER - TY - JOUR AU - Warburton, P. E. AU - Dolled, M. AU - Mahmood, R. AU - Alonso, A. AU - Li, S. AU - Naritomi, K. PY - 2000 DA - 2000// TI - Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere JO - Am J Hum Genet VL - 66 UR - https://doi.org/10.1086/302924 DO - 10.1086/302924 ID - Warburton2000 ER - TY - JOUR AU - Liehr, T. AU - Utine, G. E. AU - Trautmann, U. AU - Rauch, A. AU - Kuechler, A. AU - Pietrzak, J. PY - 2007 DA - 2007// TI - Neocentric small supernumerary marker chromosomes (sSMC)-three more cases and review of the literature JO - Cytogenet Genome Res VL - 118 UR - https://doi.org/10.1159/000106438 DO - 10.1159/000106438 ID - Liehr2007 ER - TY - JOUR AU - Rashidi-Nezhad, A. AU - Parvaneh, N. AU - Farzanfar, F. AU - Azimi, C. AU - Harewood, L. AU - Akrami, S. M. PY - 2012 DA - 2012// TI - 2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay JO - Eur J Med Genet VL - 55 UR - https://doi.org/10.1016/j.ejmg.2012.01.012 DO - 10.1016/j.ejmg.2012.01.012 ID - Rashidi-Nezhad2012 ER - TY - JOUR AU - Wiszniewski, W. AU - Hunter, J. V. AU - Hanchard, N. A. AU - Willer, J. R. AU - Shaw, C. AU - Tian, Q. PY - 2013 DA - 2013// TI - TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities JO - Am J Hum Genet VL - 93 UR - https://doi.org/10.1016/j.ajhg.2013.05.027 DO - 10.1016/j.ajhg.2013.05.027 ID - Wiszniewski2013 ER - TY - JOUR AU - Thomas, S. AU - Wright, K. J. AU - Corre, S. AU - Micalizzi, A. AU - Romani, M. AU - Abhyankar, A. PY - 2014 DA - 2014// TI - A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium JO - Hum Mutat VL - 35 UR - https://doi.org/10.1002/humu.22470 DO - 10.1002/humu.22470 ID - Thomas2014 ER - TY - JOUR AU - Williams, S. R. AU - Aldred, M. A. AU - Kaloustian, V. M. AU - Halal, F. AU - Gowans, G. AU - McLeod, D. R. PY - 2010 DA - 2010// TI - Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems JO - Am J Hum Genet VL - 87 UR - https://doi.org/10.1016/j.ajhg.2010.07.011 DO - 10.1016/j.ajhg.2010.07.011 ID - Williams2010 ER - TY - JOUR AU - Hamdan, F. F. AU - Gauthier, J. AU - Araki, Y. AU - Lin, D. T. AU - Yoshizawa, Y. AU - Higashi, K. PY - 2011 DA - 2011// TI - Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability JO - Am J Hum Genet VL - 88 UR - https://doi.org/10.1016/j.ajhg.2011.02.001 DO - 10.1016/j.ajhg.2011.02.001 ID - Hamdan2011 ER - TY - JOUR AU - Klopocki, E. AU - Lohan, S. AU - Brancati, F. AU - Koll, R. AU - Brehm, A. AU - Seemann, P. PY - 2011 DA - 2011// TI - Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis JO - Am J Hum Genet VL - 88 UR - https://doi.org/10.1016/j.ajhg.2010.11.006 DO - 10.1016/j.ajhg.2010.11.006 ID - Klopocki2011 ER - TY - JOUR AU - Levy, B. AU - Papenhausen, P. AU - Tepperberg, J. AU - Dunn, T. AU - Fallet, S. AU - Magid, M. PY - 2000 DA - 2000// TI - Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome JO - Cytogenet Cell Genet VL - 91 UR - https://doi.org/10.1159/000056839 DO - 10.1159/000056839 ID - Levy2000 ER -