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Case Presentation: How Idic(15), Presents Itself in the Areas of Speech and Language in One Preschooler Lisa Durstin-Madigan, B. A. Department of Communication Sciences University of Vermont Abstract Isodicentric(15) or inverted duplication(15), known as idic(15), is a rare chromosomal disorder of genetic origin that occurs when an additional copy of chromosome 15 is created. Typical of a child with idic(15) are subtle physical dysmorphisms, motor retardation, developmental delay and speech and language delay. Little has been written in the literature, however, about the specific manifestations of speech and language delay in idic(15). Educational profiles of children with idic(15) are needed to provide direction in these areas. A case presentation of a preschooler with idic(15) is offered here as an example of a potential protocol. Speech, language and developmental characteristics are described. Implications and suggestions for future research are offered that would enhance understanding of speech and language in idic(15). Selected References Battaglia, A. (2005). The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenic disorder. Brain & Development, 27, 365-369. Borgatti, R., Piccinelli, P., Passoni , D., Dalpra, L., Miozzo, M., Micheli, R., Gagliardi , C., & Balottin , U. (2001a). Relationship between clinical and genetic features in inverted duplicated chromosome 15” patients. Pediatric Neurology, 24(2), 111-116. Borgatti , R., Piccinelli , P., Passoni, D., Raggi , E., & Ferrarese, C. (2001b). Pervasive Developmental Disorders and GABAergic System in patients with inverted duplicated chromosome 15. Journal of Child Neurology, 16:911-914 Cleary, N. (2005). Personal communication. Gillberg C. (1998). Chromosomal disorders & autism. Journal of Autism & Developmental Disorders, 28(5):,415-425. Grammatico, P., DiRosa, C., Roccella, M., Falcolini, M., Pelliccia , A., Roccella, F., & Del Porto, G. (1994). Inv dup(15): Contribution to the clinical definition of phenotype. Clinical Genetics, 46, 233-237. Hou, J. W., & Wang, T. R. (1998). Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan. European Journal of Pediatrics, 157,122-127. Moeschler, J. B. (2002). Estimate of prevalence of proximal 15q duplication syndrome. Research Letter, American Journal of Medical Genetics, 111, 440442. Rineer, S., Finucane, B., & Simon, E. W. (1998). Autistic symptoms among children and young adults with isodicentric chromosome 15. American Journal of Medical Genetics , 81, 428-433. Schroer, R. J., Phelan, M. C., Michaelis, R. C., Crawford, E. C., Skinner, S. A., Cuccaro, M., Simensen , R. J., Bishop, J., Skinner, C., Fender, D. & Stevenson, R. E. (1998). Autism and maternally derived aberrations of chromosome 15q. American Journal of Medical Genetics, 76,327-336. Wandstrat, A.E., Leana-Cox, J., Jenkins , L., & Schwartz, S. (1998). Molecular cytogenic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. American Journal of Human Genetics, 62, 925-936. Webb, T. (1994). Inverted dup(15) supernumerary marker chromosomes. Journal of Medical Genetics. 31(8):585-594. Wisniewski, L., Hassold, T., Heffelfinger, J., & Higgins, J. V. (1979). Cytogenic and clinical studies in five cases of inv dup(15). Human Genetics, 50, 259270. Wolpert, C., & Finucane , B. Basic genetics of chromosome 15q duplications. http://www.idic15.org/description2.html#autism. Retrieved from the internet on September 21, 2005. For a complete list of references please contact Lisa Durstin-Madigan at [email protected].