Diagnosis of de novo 17p11.2 microduplication - potocki-lupski syndrome identified by chromosomal microarray analysis: a case report / Diagnóstico de novo 17p11.2 microduplicação - potocki-lupski síndrome identificada por análise de microarray chromosomal: um relatório de caso

Authors

  • Irene Plaza Pinto
  • Lysa Bernardes Minasi
  • Aldaires Vieira de Melo
  • Damiana Mírian da Cruz e Cunha
  • Cristiano Luiz Ribeiro
  • Cláudio Carlos da Silva
  • Aparecido Divino da Cruz

DOI:

https://doi.org/10.34117/bjdv7n9-039

Keywords:

CMA, Potocki-Lupski Syndrome, 17p11.2, Microduplication.

Abstract

Potocki-Lupski Syndrome is a continuous gene syndrome caused by the microduplication of 3.7 Mb segment at 17p11.2 characterized by developmental delay, intellectual disability, the developmental deficit for psychomotor and expressive speech, autistic features, obsessive-compulsive behaviors, and attention deficit. Using CMA, we detected the first de novo 3.7 Mb microduplication at 17p11.2 in a boy with an intellectual disability from Central Brazil.

References

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Published

2021-09-02

How to Cite

Pinto, I. P., Minasi, L. B., de Melo, A. V., e Cunha, D. M. da C., Ribeiro, C. L., da Silva, C. C., & da Cruz, A. D. (2021). Diagnosis of de novo 17p11.2 microduplication - potocki-lupski syndrome identified by chromosomal microarray analysis: a case report / Diagnóstico de novo 17p11.2 microduplicação - potocki-lupski síndrome identificada por análise de microarray chromosomal: um relatório de caso. Brazilian Journal of Development, 7(9), 86886–86894. https://doi.org/10.34117/bjdv7n9-039

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Section

Original Papers