References
- Buckton KE, O'Riordan ML, Ratcliffe S, Slight J, Mitchell M, McBeath S, et al. A G-band study of chromosomes in liveborn infants. Ann Hum Genet 1980;43:227-39. https://doi.org/10.1111/j.1469-1809.1980.tb01556.x
- Buckton KE, Spowart G, Newton MS, Evans HJ. Forty four probands with an additional "marker" chromosome. Hum Genet 1985;69:353-70. https://doi.org/10.1007/BF00291656
- Liang JS, Shimojima K, Yamamoto T. Application of array-based comparative genome hybridization in children with developmental delay or mental retardation. Pediatr Neonatol 2008;49:213-7. https://doi.org/10.1016/S1875-9572(09)60013-9
- Thuresson AC, Bondeson ML, Edeby C, Ellis P, Langford C, Dumanski JP, et al. Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation. Cytogenet Genome Res 2007;118:1-7. https://doi.org/10.1159/000106434
- Koochek M, Harvard C, Hildebrand MJ, Van Allen M, Wingert H, Mickelson E, et al. 15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH. Clin Genet 2006;69:124-34. https://doi.org/10.1111/j.1399-0004.2005.00560.x
- Battaglia A. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet J Rare Dis 2008;3:30. https://doi.org/10.1186/1750-1172-3-30
- Bingham PM, Spinner NB, Sovinsky L, Zackai EH, Chance PF. Infantile spasms associated with proximal duplication of chromosome 15q. Pediatr Neurol 1996;15:163-5. https://doi.org/10.1016/0887-8994(96)00119-1
- Takeda Y, Baba A, Nakamura F, Ito M, Honma H, Koyama T. Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15. Seizure 2000;9:145-50. https://doi.org/10.1053/seiz.1999.0367
- Chifari R, Guerrini R, Pierluigi M, Cavani S, Sgro V, Elia M, et al. Mild generalized epilepsy and developmental disorder associated with large inv dup(15). Epilepsia 2002;43:1096-100. https://doi.org/10.1046/j.1528-1157.2002.34101.x
- Michelson M, Eden A, Vinkler C, Leshinsky-Silver E, Kremer U, Lerman-Sagie T, et al. Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother. Eur J Paediatr Neurol 2011;15:230-3. https://doi.org/10.1016/j.ejpn.2010.11.001
- Webb T, Hardy CA, King M, Watkiss E, Mitchell C, Cole T. A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes. Clin Genet 1998;53:34-43. https://doi.org/10.1034/j.1399-0004.1998.531530107.x
- Battaglia A, Gurrieri F, Bertini E, Bellacosa A, Pomponi MG, Paravatou- Petsotas M, et al. The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy. Neurology 1997;48:1081-6. https://doi.org/10.1212/WNL.48.4.1081
- Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS. Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. Am J Med Genet A 2006;140:434-41.
- Wang NJ, Liu D, Parokonny AS, Schanen NC. High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage. Am J Hum Genet 2004;75:267-81. https://doi.org/10.1086/422854
- Locke DP, Segraves R, Nicholls RD, Schwartz S, Pinkel D, Albertson DG, et al. BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications. J Med Genet 2004;41:175-82. https://doi.org/10.1136/jmg.2003.013813
- Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, et al. Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet 2008;82:1249-61. https://doi.org/10.1016/j.ajhg.2008.04.020
- Nakatsu Y, Tyndale RF, DeLorey TM, Durham-Pierre D, Gardner JM, McDanel HJ, et al. A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus. Nature 1993;364:448-50. https://doi.org/10.1038/364448a0
- van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet 2009;46:511-23. https://doi.org/10.1136/jmg.2008.063412
- Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 2008;40:322-8. https://doi.org/10.1038/ng.93
- Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, et al. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat 2010;31:840-50. https://doi.org/10.1002/humu.21284
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