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

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

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.


Keywords


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

References


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

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