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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].
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