Detection of Turner Syndrome by Quantitative {PCR} of \textit{{SHOX}} and \textit{{VAMP}7} Genes

Ibarra Ramírez, Marisol y Zamudio Osuna, Michelle Jesús y Campos Acevedo, Luis Daniel y Gallardo Blanco, Hugo Leonid y Cerda Flores, Ricardo Martín y Rodríguez Sánchez, Irám Pablo y Martínez de Villarreal, Laura Elia (2015) Detection of Turner Syndrome by Quantitative {PCR} of \textit{{SHOX}} and \textit{{VAMP}7} Genes. Genetic Testing and Molecular Biomarkers, 19 (2). pp. 88-92. ISSN 1945-0265, 1945-0257

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Resumen

Turner syndrome (TS) affects 1 in 2500/3000 liveborn girls and is characterized by short stature, gonadal dysgenesis, pterygium colli, cubitus valgus, and a low hairline (Wiedemann and Glatzl, 1991; Ranke and Saenger, 2001; Pinsker, 2012). It is caused by partial or total loss of the second sex chromosome (Ford et al., 1959; Sybert and McCauley, 2004). Complete monosomy X (45,X) represents 50–60% of all cases, while mosaics of two or more cell lines and structural aberrations (mostly Xq isochromosomes) account for the remaining 40–50% (Sybert and McCauley, 2004).

Tipo de elemento:	Article
Palabras claves no controlados:	Chromosomes, Human, X, Early Diagnosis, Gene Dosage, Gene Expression Profiling, Genes, X-Linked, Genes, sry, Genetic Testing, Homeodomain Proteins, Karyotyping, Mexico, Monosomy, Neonatal Screening, R-SNARE Proteins, RNA, Long Noncoding, Real-Time Polymerase Chain Reaction, Short Stature Homeobox Protein, Turner Syndrome, Ubiquitin-Activating Enzymes
Materias:	CONACYT > Medicina y Ciencias de la Salud
Divisiones:	Medicina
Usuario depositante:	Dr.C. Hugo Gallardo Blanco
Creadores:	Creador Email ORCID Ibarra Ramírez, Marisol mibarrar@uanl.edu.mx orcid.org/0000-0002-3875-4532 Zamudio Osuna, Michelle Jesús NO ESPECIFICADO NO ESPECIFICADO Campos Acevedo, Luis Daniel NO ESPECIFICADO NO ESPECIFICADO Gallardo Blanco, Hugo Leonid hugo.gallardobl@uanl.edu.mx orcid.org/0000-0002-7816-4967 Cerda Flores, Ricardo Martín NO ESPECIFICADO NO ESPECIFICADO Rodríguez Sánchez, Irám Pablo NO ESPECIFICADO orcid.org/0000-0002-5988-4168 Martínez de Villarreal, Laura Elia NO ESPECIFICADO NO ESPECIFICADO
Fecha del depósito:	23 Sep 2026 15:15
Última modificación:	23 Sep 2026 15:15
URI:	http://eprints.uanl.mx/id/eprint/31434

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