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23-11-2016 | Letter to the Editor

Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder

Auteurs: Serkan Güneş, Özalp Ekinci, Nuran Ekinci, Fevziye Toros

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 2/2017

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Abstract

Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder.
Literatuur
go back to reference Abu-Amero, K. K., Hellani, A. M., Salih, M. A., Seidahmed, M. Z., Elmalik, T. S., Zidan, G., et al. (2010). A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: Genotype-phenotype correlation. BMC Medical Genetics, 11, 135.CrossRefPubMedPubMedCentral Abu-Amero, K. K., Hellani, A. M., Salih, M. A., Seidahmed, M. Z., Elmalik, T. S., Zidan, G., et al. (2010). A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: Genotype-phenotype correlation. BMC Medical Genetics, 11, 135.CrossRefPubMedPubMedCentral
go back to reference Aitken, K. J. (2010). A professionals A-Z of the genetic ASD syndromes. London: Jessica Kingsley Press. Aitken, K. J. (2010). A professionals A-Z of the genetic ASD syndromes. London: Jessica Kingsley Press.
go back to reference Chen, C. P., Lin, S. P., Su, J. W., Lee, M. S., & Wang, W. (2012). Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder. Genetic Counselling, 23(2), 335–338. Chen, C. P., Lin, S. P., Su, J. W., Lee, M. S., & Wang, W. (2012). Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder. Genetic Counselling, 23(2), 335–338.
go back to reference Geschwind, D. H. (2011). Genetics of autism spectrum disorders. Trends in Cognitive Science, 15(9), 409–416.CrossRef Geschwind, D. H. (2011). Genetics of autism spectrum disorders. Trends in Cognitive Science, 15(9), 409–416.CrossRef
go back to reference Lerer, I., Sagi, M., Meiner, V., Cohen, T., Zlotogora, J., & Abeliovich, D. (2005). Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. Human Molecular Genetics, 14(24), 3911–3920.CrossRefPubMed Lerer, I., Sagi, M., Meiner, V., Cohen, T., Zlotogora, J., & Abeliovich, D. (2005). Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. Human Molecular Genetics, 14(24), 3911–3920.CrossRefPubMed
go back to reference Onesimo, R., Orteschi, D., Scalzone, M., Rossodivita, A., Nanni, L., Zannoni, G. F., et al. (2012). Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. American Journal of Medical Genetics, Part A, 158 A(9), 2266–2271.CrossRef Onesimo, R., Orteschi, D., Scalzone, M., Rossodivita, A., Nanni, L., Zannoni, G. F., et al. (2012). Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. American Journal of Medical Genetics, Part A, 158 A(9), 2266–2271.CrossRef
go back to reference Reddy, K. S. (2005). Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Medical Genetics, 18(6), 3.CrossRef Reddy, K. S. (2005). Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Medical Genetics, 18(6), 3.CrossRef
go back to reference Szatmari, P., Paterson, A. D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X.-Q., et al. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39(3), 319–328.CrossRefPubMedPubMedCentral Szatmari, P., Paterson, A. D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X.-Q., et al. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39(3), 319–328.CrossRefPubMedPubMedCentral
go back to reference Vinci, G., Chantot-Bastaraud, S., El Houate, B., Lortat-Jacob, S., Brauner, R., & McElreavey, K. (2007). Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. Molecular Human Reproduction, 13(9), 685–689.CrossRefPubMed Vinci, G., Chantot-Bastaraud, S., El Houate, B., Lortat-Jacob, S., Brauner, R., & McElreavey, K. (2007). Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. Molecular Human Reproduction, 13(9), 685–689.CrossRefPubMed
go back to reference Yang, Y., Wang, C., Wang, F., Zhu, L., Liu, H., & He, X. (2012). Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation. Gene, 502(2), 154–158.CrossRefPubMed Yang, Y., Wang, C., Wang, F., Zhu, L., Liu, H., & He, X. (2012). Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation. Gene, 502(2), 154–158.CrossRefPubMed
Metagegevens
Titel
Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder
Auteurs
Serkan Güneş
Özalp Ekinci
Nuran Ekinci
Fevziye Toros
Publicatiedatum
23-11-2016
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 2/2017
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-016-2943-x

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