Microdeletion syndrome in neurofibromatosis type-1: a case report

Authors

  • Miladys Orraca Castillo Especialista de Segundo Grado en Genética Clínica. Auxiliar. Centro Provincial de Genética Médica Pinar del Río.
  • Deysi Licourt Otero Especialista de Primer Grado en Medicina General Integral y Genética Clínica. Asistente. Centro Provincial de Genética Médica Pinar del Río.
  • Ana Isabel Sánchez Álvarez de La Campa Especialista de Primer Grado en Medicina General Integral. Instructora. Sede universitaria Municipal San Juan y Martínez. Servicio Municipal de Genética Médica San Juan y Martínez.

Keywords:

NEUROFIBROMATOSES/genetics/diagnosis/complications.

Abstract

Neurofibromatosis type-1 is a neuroectodermic genetic condition, where different types of mutations in NF1 gene have been described. Its locus is located at chromosome-17, thousand of genes are mapping, and some of them are found in very near regions of the gene of this disease. Medical literature about the topic was reviewed; a case presenting the exact clinical characteristics of a microdeletion syndrome of NF1 gene is reported, which constitutes a new case to the Cuban medical science.

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References

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Published

2011-12-23

How to Cite

1.
Orraca Castillo M, Licourt Otero D, Sánchez Álvarez de La Campa AI. Microdeletion syndrome in neurofibromatosis type-1: a case report. Rev Ciencias Médicas [Internet]. 2011 Dec. 23 [cited 2025 Aug. 30];15(4):231-7. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/850

Issue

Vol. 15 No. 4 (2011)

Section

CASE REPORTS

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