Published Articles

Clinical Descriptions of Chromosome 15q Duplication Syndrome
The following articles provide a comprehensive description of chromosome 15q duplication syndrome

Battaglia A, Gurrieri F, Bertini E, Bellacosa A, Pomponi MG, Paravatou-Petsotas M, Mazza S, Neri G.:  The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy. Neurology. 1997 Apr;48(4):1081-6.
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Battaglia, A: The inv dup(15) or idic(15) syndrome: a clinically recognizable neurogenetic disorder. Brain Dev. 2005. 27:365-369.
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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 Mar 1;140(5):434-41.
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Chromosome 15q Duplications and Autism
Following is a partial listing of articles addressing the association between autistic disorder and chromosome 15q duplication syndrome. 

Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet. 1997 60:928–934

Schroer, R. J., Phelan, M. C., Michaelis, R. C., Crawford, E. C., Skinner, S. A.,Cuccaro, M., Simensen, R. J., Bishop, J., et al.  Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet. 1998 76:327-336.

Bass MP, Menold MM, Wolpert CM, Donnelly SL, Ravan SA, Hauser ER, Maddox LO, Vance JM, Abramson RK, Wright HH, Gilbert JR, Cuccaro ML, DeLong GR, Pericak-Vance MA: Genetic studies in autistic disorder and chromosome 15. Neurogenetics. 2000 Mar;2(4):219-26.

Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ, Jacobs P: The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. Am J Med Genet 2001. 105(8):675-685.

Borgatti R, Piccinelli P, Passoni D, Dalpra L, Miozzo M, Micheli R, Gagliardi C, Balottin U:  Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients. Pediatr Neurol 2001. 24111-116.
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Herzing LB, Cook EH, Jr., Ledbetter DH: Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications Hum Mol Genet. 2002;11:1707-1718.

Moeschler JB, Mohandas TK, Hawk AB, Noll WW: Estimate of prevalence of proximal 15q duplication syndrome Am J Med Genet. 2002;111:440-442.

Thomas NS, Roberts SE, Browne CE: Estimate of the prevalence of chromosome 15q11-q13 duplications Am J Med Genet A. 2003;120:596-598.

Shao Y, Cuccaro ML, Hauser ER, Raiford KL, Menold MM, Wolpert CM, Ravan SA, Elston L, Decena K, Donnelly SL, Abramson RK, Wright HH, DeLong GR, Gilbert JR, Pericak-Vance MA: Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet. 2003 Mar;72(3): 539-48. Epub 2003 Feb 3.

Thomas JA, Johnson J, Peterson Kraai TL, et al.: Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment Am J Med Genet A. 2003;119:111-120.

Nurmi EL, Amin T, Olson LM, Jacobs MM, McCauley JL, Lam AY, Organ EL, Folstein SE, Haines JL, Sutcliffe JS: Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism. Mol Psychiatry. 2003 Jun;8(6):624-34, 570.

Bolton PF, Veltman MW, Weisblatt E, et al.: Chromosome 15q11-13  abnormalities and other medical conditions in individuals with autism spectrum disorders Psychiatr Genet. 2004;14:131-137.

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;75:267-281.

Baron CA, Tepper CG, Liu SY, Davis RR, Wang NJ, Schanen NC, Gregg JP. Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes. Hum Mol Genet. 2006 Mar 15;15(6):853-69.

Chromosome 15q Duplications and Epilepsy
Following is a partial listing of articles addressing the association between chromosome 15q duplication syndrome and epilepsy 

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 Mar;9(2):145-50.
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Buoni S, Sorrentino L, Farnetani MA, Pucci L, Fois A. The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings. J Child Neurol. 2000 Jun;15(6):380-5
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Torrisi L, Sangiorgi E, Russo L, Gurrieri F. Rearrangements of chromosome 15 in epilepsy. Am J Med Genet. 2001 Summer;106(2):125-8.
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Chifari R, Guerrini R, Pierluigi M, Cavani S, Sgro V, Elia M, Canger R, Canevini MP. Mild generalized epilepsy and developmental disorder associated with large inv dup(15). Epilepsia. 2002 Sep;43(9):1096-100.
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Mann SM, Wang NJ, Liu DH, Wang L, Schultz RA, Dorrani N, Sigman M,
Schanen NC. Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy.  Hum Genet. 2004 Jul;115(2):104-11.
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Valente KD, Freitas A, Fridman C, Varela M, Silva AE, Fett AC, Koiffmann CP. Inv dup (15): is the electroclinical phenotype helpful for this challenging clinical diagnosis? Clin Neurophysiol. 2006 Apr;117(4):803-9.
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