Molecular diagnosis of Smith-Magenis syndrome using MLPA (Multiplex Ligationdependent Probe Amplification)

Authors

  • Sergio Talavera Vargas-Machuca Universidad Norbert Wiener, Facultad de Ciencias de la Salud, Lima, Perú; Instituto Nacional Materno Perinatal, Laboratorio de Citogenética, Lima, Perú; Universidad San Martín de Porres, Facultad de Medicina Humana, Lima, Perú https://orcid.org/0000-0002-4360-4790
  • Ismenia Gamboa Oré Universidad Federico Villarreal, Facultad de Medicina, Lima, Perú; Instituto Nacional Materno Perinatal, Laboratorio de Citogenética, Lima, Perú; Universidad San Martín de Porres, Facultad de Medicina Humana, Lima, Perú
  • Francia Huamán Dianderas Universidad de San Martín de Porres, Facultad de Medicina Humana, Centro de Investigación de Genética y Biología Molecular, Lima, Perú https://orcid.org/0000-0002-1104-4725
  • Ricardo Fujita Alarcón Universidad de San Martín de Porres, Facultad de Medicina Humana, Centro de Investigación de Genética y Biología Molecular, Lima, Perú https://orcid.org/0000-0002-9617-5109
  • María Luisa Fajardo Loo Instituto Nacional Materno Perinatal, Lima, Perú https://orcid.org/0000-0001-6165-7936
  • María Luisa Guevara Gil Universidad de San Martín de Porres, Facultad de Medicina Humana, Centro de Investigación de Genética y Biología Molecular, Lima, Perú https://orcid.org/0000-0001-5457-231X

DOI:

https://doi.org/10.24265/horizmed.2017.v17n3.12

Keywords:

Smith-Magenis Syndrome, Del 17p11.2, MLPA

Abstract

Medical genetics is rapidly advancing thanks to technologies that accurately define which genes are involved in the development of diseases. Some syndromes occur in the general population, and their diagnosis and treatment are important to provide patients with an adequate care and prognosis. We present the case of a dysmorphic child who was born at 33 weeks of pregnancy by caesarean delivery due to preeclampsia. Cytogenetic analysis showed a heterozygous deletion on the short arm of chromosome 17 (46, XX, del 17p11.2). The diagnosis was complemented by MLPA analysis, which measures the presence/absence of certain genes defined in some syndromes, and confirmed the deletion of 2.1 megabases of DNA, including the RAI1 gene, responsible for the Smith-Magenis syndrome.

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Published

2017-09-19

How to Cite

1.
Talavera Vargas-Machuca S, Gamboa Oré I, Huamán Dianderas F, Fujita Alarcón R, Fajardo Loo ML, Guevara Gil ML. Molecular diagnosis of Smith-Magenis syndrome using MLPA (Multiplex Ligationdependent Probe Amplification). Horiz Med [Internet]. 2017Sep.19 [cited 2025May1];17(3):73-8. Available from: https://www.horizontemedico.usmp.edu.pe/index.php/horizontemed/article/view/671

Issue

Vol. 17 No. 3 (2017): July - September

Section

Case report

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