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Revista de Obstetricia y Ginecología de Venezuela

Print version ISSN 0048-7732

Abstract

MORALES DE MACHIN, Alisandra; MENDEZ, Karilé; BORJAS, Lisbeth  and  BRACHO, Ana. Defecto del tubo neural, prolapso genital neonatal y polimorfismo de la metiltetrahidrofolato reductasa: Presentación de un caso. Rev Obstet Ginecol Venez [online]. 2013, vol.73, n.2, pp.132-137. ISSN 0048-7732.

We report the case of a female newborn 26 days old with thoracolumbar myelomeningocele, hydrocephalus and genital prolapse. In Genetic Research Institute of the Faculty of Medicine, University of Zulia, Maracaibo, 6 samples of oxyribonucleic acid corresponding to affected mother, father and 3 controls were analyzed. In this family are interrelated congenital anomaly and genetic risk factors and environmental, allowing appropriate genetic counseling.

Keywords : Polymorphism; Methylenetetrahydrofolate reductase; Genital prolapse; Newborn; Neural tube defect.

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