Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates
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Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns. Materials and Methods: Gene doses of SHOX, VAMP7, and SRY were determined by quantitative polymerase chain reaction (qPCR) using DNA obtained from dried blood samples from newborns. Relative quantification values were obtained. An aneuploidy profile was established according to cutoff values. Samples with ≥2 gene doses (out of range) were reanalyzed, and those with aneuploidy profiles were confirmed by karyotyping. Sensitivity, specificity, and positive and negative predictive values were obtained. Results: A total of 10,033 samples were collected (4945 females and 5088 males). Of 244 (2.43%) samples with ≥2 gene doses that were retested, 20 cases were confirmed. The overall incidence of SCAs was 1 in 500 live newborns. There were six cases of Turner syndrome (1/824), 3 cases of XXX (1/1648), 7 cases of Klinefelter syndrome (1/726), and 4 cases of of XYY (1/1272). The sensitivity was 0.952 (95.42%); the specificity was 0.975 (97.56%); the positive predictive value was 0.909 (90.91%) and the negative predictive value was 0.987 (98.77%). Conclusions: Gene copy number analyses of the VAMP7, SHOX, and SRY genes by qPCR from blood samples spotted onto filter paper is a highly reliable method for the early detection of male and female SCAs.
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The RT-PCR technique was determined to be highly reliable for all sex chromosome abnormalities.
“The technique was determined to be highly reliable for all sex chromosome abnormalities.93”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [93]
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Research works printed but not linked: 1
- Arsham MS, Barch MJ, Lawce HJ; Association of Genetic Technologists (2017) The AGT Cytogenetics Laboratory Manual. John Wiley & Sons, Inc., Hoboken, NJ.
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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- Authors
- Ibarra-Ramírez, M., Lugo-Trampe, J. D. J., Campos-Acevedo, L. D., Zamudio-Osuna, M., Torres-Muñoz, I., Gómez-Puente, V., García-Castañeda, G., Arredondo-Vázquez, P., Rodríguez-Sánchez, I. P., Schaeffer, S. E., Velasco-Sepúlveda, B. H., Villarreal-Pérez, J. Z., & Martínez-de-Villarreal, L. E.
- Affiliations
- Departamento de Genética and Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL), Monterrey, Nuevo León, México.
- Universidad Autónoma de Nuevo León (MX)
- Departamento de Epidemiología, Servicios de Salud de Nuevo León, México.
- Departamento de Endocrinología, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL), Monterrey, Nuevo León, México.
- ORCID
- Venue
- Genetic Testing and Molecular Biomarkers
- Publisher
- SAGE Publications
- Published
- 2020-06-01
- Volume
- 24
- Issue
- 6
- Pages
- 352-358
- ISSN
- 1945-0257 (ISSN-L)
- 1945-0265
- OpenAlex
- W3027665815
- Cited by
- 4
- References
- 28
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 1
- FWCI
- 0.15
- Type
- journal article
- Language
- en
- Open access
- green
- eprints.uanl.mx
- Locations
- Genetic Testing and Molecular Biomarkers (publishedVersion)
- PubMed (publishedVersion)
- El Repositorio Academico Digital de la UANL (Universidad Autónoma de Nuevo León) (submittedVersion)
- Funders
- Universidad Autónoma de Nuevo León
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- sex chromosome aneuploidy, SHOX, VAMP7, SRY, gene copy number quantification, newborn screening, Turner syndrome, Klinefelter syndrome, XYY syndrome, aneuploidy detection, dried blood spots
- MeSH terms
- Short Stature Homeobox Protein, Aneuploidy, Female, Humans, Infant, Newborn, Karyotyping, Klinefelter Syndrome, Male, Mexico, Prenatal Diagnosis, Sex Chromosome Aberrations, Sex Chromosomes, Trisomy, Turner Syndrome, Neonatal Screening, Gene Dosage, Chromosomes, Human, X, R-SNARE Proteins, Sex-Determining Region Y Protein, DNA Copy Number Variations, Sex Chromosome Disorders of Sex Development
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