Interstitial duplication syndrome in the chromosomic region 15q11q13: a case report
DOI:
https://doi.org/10.33448/rsd-v11i11.33348Keywords:
Chromosomal deletion; Chromosomal duplication; Signs and symptoms; Genetic variation.Abstract
Introduction: The chromosomal region 15q11-13 contains a group of genes essential for normal neurodevelopment and alterations in this region result in different syndromes. Among the most frequent alterations, there are chromosomal deletions and duplications. Duplications of chromosome region 15q11q13 occur as a supernumerary chromosome 15, and may occur as interstitial duplications. The main clinical manifestations are intellectual impairment, problems with vision, hearing, teething and in bones and joints. Currently, there are few cases reported in the literature about this genetic condition, which justifies the relevance of this study. Objective: To report a case of duplication in the chromosomal region 15q11q13 and describe the clinical manifestations. Methodology: This is a case report of a qualitative nature. Case report: J.V.A.S., male, eight years old, attended at the Associação de Pais e Amigos dos Excepcionais (APAE), in Anápolis, Goiás, Brazil, in 2017, diagnosed with neuropsychomotor developmental delay (ADNPM) and macrocrania. No complications during childbirth. The patient had head support at six months, sat up at nine months, walked and talked at one year and ten months. He attends school and has good interaction, but has learning difficulties. In 2018, the CGH – ARRAY (aCGH) revealed the presence of a duplication in 15q11.2q13.1 of approximately 6.1Mb classified as pathogenic. Results and discussion: Due to the rarity of this syndrome, we did not find a satisfactory number of articles that specifically addressed this duplication. Conclusion: It is necessary to carry out more studies, in the long term and through satisfactory samples, in order to elucidate the main aspects involved in this pathology.
References
Adriana, S. P., et al. (2018). Metodologia de Pesquisa Científica. Universidade Federal de Santa Maria, RS.
Gabriel, I. C., & Sei, M. B. (2021). A Família Diante de uma Síndrome Genética não Esclarecida: Revisão Sistemática da Literatura. Saúde e Desenvolvimento Humano. 9(1). http://dx.doi.org/10.18316/sdh.v9i1.6538.
Goff, B. S. N., Monk, J. K, Malone, J., Staats, N., Tanner, A., & Springer, N. P. (2016). Comparing parents of children with Down syndrome at different life span stages. Journal of Marriage and Family, 78, 1131-1148. 10.1111/jomf.12312.
Hannum, J. S. S., et al. (2018). Impacto do Diagnóstico nas Famílias de Pessoas com Síndrome de Down: Revisão da Literatura. Pensando Famílias. 22(2), 121-136.
Hartley, S. L., Seltzer, M. M., Head, L., & Abbeduto, L. (2012). Psychological well-being in fathers of adolescents and young adults with Down syndrome, fragile X syndrome, and autism. Family Relations, 61, 327-342. 10.1111/j.1741-3729.2011.00693.x.
Hippman, C., Inglis, A., & Austin, J. (2012). What is a “balanced” description? Insight from parents of individuals with Down syndrome. J Genet Couns, 21(1), 35-44.10.1007/s10897-011-9417-2.
Hogart, A., et al. (2009). Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. Journal of Medical Genetics. 42(2), 86-93.10.1136/jmg.2008.061580.
Isles, A. (2017). 15q11q13 Duplicações (intersticial). Entendendo os distúrbios cromossômicos e genéticos (UNIQUE), Reino Unido, 2017. https://www.rarechromo.org/media/information/Chromosome%2015/15q11q13%20duplications%20FTNW.pdf.
Kalsner, L., Chamberlain, S. J., & Prader-Willi, A. (2015). Síndromes de duplicação 15q11-q13. Clínicas Pediátricas da América do Norte. 62(3), 587-606. doi:10.1016/j.pcl.2015.03.004.
Lüdke, M., & André, M. E. A. (1986). Pesquisa em Educação: Abordagens Qualitativas. São Paulo: EPU.
Nunes, M. D. R., Dupas, G., & Nascimento, G. L. C. (2011). Atravessando períodos nebulosos: A experiência da família da criança portadora da síndrome de Down. Rev Bras Enferm, Brasília, marabr; 64(2), 227-33.
Piard, J., et al. (2010). Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication. American Journal of Medical Genetics. 152(8), 1993-41.10.1002/ajmg.a.33521.
Repetto, G. M. et al. (1998). Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization. American Journal of Medical Genetics. 79(2), 82-89.10.1002/(sici)1096-8628(19980901)79:2<82::aid-ajmg2>3.0.co;2-p.
Siklos, S., & Kerns, K. A. (2006). Assessing need for social support in parents of children with autism and Down syndrome. J Autism Dev Disord, 36, 921-933. 10.1007/s10803-006-0129-7.
Silva, N. L. P., & Dessen, M. A. (2007). Crianças com e sem síndrome de Down: Valores e crenças de pais e professores. Revista Brasileira de Educação Especial, 13(3), 429-446.
Sunelaitis, R. C., Arruda, D. C., & Marcom, S. S. (2007). A repercussão de um diagnóstico de síndrome de Down no cotidiano familiar: Perspectiva da mãe. Acta Paulista de Enfermagem, 20(3), 264-271.
Veek, S. M. C. V. D., Kraaij, V., & Garnefski, N. (2009a). Down or up? Explaining positive and negative emotions in parents of children with Down’s syndrome: Goals, cognitive coping, and resources. Journal of Intellectual & Developmental Disability, 34(3), 216-229.
Veek, S. M. C. V. D., Kraaij, V., & Garnefski, N. (2009b). Cognitive coping strategies and stress in parents of children with Down syndrome: A prospective study. Intellectual and Developmental
Welter, I., Cetolin, S. F., Trcinski, C., & Kelli, S. C. (2008). Gênero, maternidade e deficiência: Representação da diversidade. Revista Textos & Contextos Porto Alegre, 7(1), 98-119. Retirado de http://revistaseletronicas.pucrs.br/ojs/index.php/fass/article/view/3941
Yin, R. K. (2000). Estudo de caso: planejamento e métodos. (2ª edição): Bookman.
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Copyright (c) 2022 Thaís Ribeiro Garcia; Miguel Carlos Azevedo Cruz; Geraldo Santana Xavier Nunes Neto; Eduarda Pereira Castanheira ; Paôlla Nayme Martins Morais Nicolau; Eduardo Francisco Cardoso ; Thaís Bomfim Teixeira
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