NDLI: Diagnóstico molecular de síndrome de Smith-Magenis por MLPA (Multiplex Ligation-dependent Probe Amplification)

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Diagnóstico molecular de síndrome de Smith-Magenis por MLPA (Multiplex Ligation-dependent Probe Amplification)

Content Provider	Semantic Scholar
Author	Vargas-Machuca, Sergio Talavera Oré, Ismenia Gamboa Dianderas, Francia Huamán Alarcón, Ricardo Fujita Loo, María Luisa Fajardo Gil, María Luisa Guevara
Copyright Year	2017
Abstract	La genetica medica avanza rapidamente gracias a las tecnologias que definen con precision el aporte de los genes en el desarrollo de enfermedades. Algunos sindromes se presentan en la poblacion general, y su diagnostico y manejo son importantes para brindar al paciente cuidados y pronosticos de vida adecuados. Presentamos el caso de una nina dismorfica nacida a las 33 semanas de gestacion por cesarea por preemclampsia materna. El analisis citogenetico revelo una delecion heterocigota en el brazo corto del cromosoma 17 (46, XX, del 17p11.2) en el estudio cromosomico. El diagnostico se complemento con el analisis de MLPA, que mide la presencia/ausencia de ciertos genes definidos en algunos sindromes, y confirmo la delecion de 2.1 megabases que incluyen el gen RAI1, responsable del Sindrome de Smith-Magenis.
Starting Page	73
Ending Page	78
Page Count	6
File Format	PDF HTM / HTML
DOI	10.24265/horizmed.2017.v17n3.12
Volume Number	17
Alternate Webpage(s)	http://www.scielo.org.pe/pdf/hm/v17n3/a12v17n3.pdf
Alternate Webpage(s)	https://doi.org/10.24265/horizmed.2017.v17n3.12
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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