title: Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy.
abstract: OBJECTIVE
  In this study, we examined the doses of the stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY genes to establish a protocol for using peripheral blood samples deposited on filter paper for the screening of sex chromosome aneuploidy in neonates. We also measured correlations with karyotypes to assess this method as a neonatal screening strategy.
  
  
  METHODS
  This was an observational, descriptive, comparative blind study. Thirty-two healthy young adults (17 women, 15 men; age, ≥18 years), four patients with known sex chromosome aneuploidy (positive control group), and 1000 healthy newborns were included. Gene dosages were determined using quantitative real-time polymerase chain reaction (RT-PCR). Values with standard deviations (SDs) of three or more were considered abnormal.
  
  
  RESULTS
  Men and women differed in the gene dosage of the SRY gene. Cases with Turner syndrome showed values below 3 SDs for SHOX and VAMP7 genes, and cases with Klinefelter syndrome showed values above 3 SDs for SHOX and VAMP7 genes. Two suspected cases of sex chromosome aneuploidy were diagnosed using our neonatal screening strategy; these cases were confirmed as Turner syndrome and 47,XYY syndrome by karyotyping.
  
  
  CONCLUSIONS
  Our data establish a basis for the determination of chromosomal sex and neonatal screening of sex chromosome aneuploidy using RT-PCR.
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL) , Monterrey, México .
authors.forename: Luis Daniel
authors.initials: LD
authors.lastname: Campos-Acevedo
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL) , Monterrey, México .
authors.forename: Marisol
authors.initials: M
authors.lastname: Ibarra-Ramirez
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL) , Monterrey, México .
authors.forename: José
authors.initials: J
authors.lastname: de Jesús Lugo-Trampe
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL) , Monterrey, México .
authors.forename: Michelle
authors.initials: M
authors.lastname: de Jesús Zamudio-Osuna
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL) , Monterrey, México .
authors.forename: Iris
authors.initials: I
authors.lastname: Torres-Muñoz
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL) , Monterrey, México .
authors.forename: Ma
authors.initials: M
authors.lastname: Del Roble Velasco-Campos
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL) , Monterrey, México .
authors.forename: Luz
authors.initials: L
authors.lastname: Rojas-Patlan
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL) , Monterrey, México .
authors.forename: Irám Pablo
authors.initials: IP
authors.lastname: Rodríguez-Sánchez
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL) , Monterrey, México .
authors.forename: Laura Elia
authors.initials: LE
authors.lastname: Martínez-de-Villarreal
mesh_terms: D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D002648:Child; D005260:Female; D018628:Gene Dosage; D018398:Homeodomain Proteins / Q000097:blood / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping / Q000379:methods; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000235:genetics; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D050683:R-SNARE Proteins / Q000097:blood / Q000235:genetics; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders; D012730:Sex Chromosomes; D051876:Sex-Determining Region Y Protein / Q000097:blood / Q000235:genetics; D000074122:Short Stature Homeobox Protein; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics; D014997:XYY Karyotype
chemical_list: D018398:Homeodomain Proteins; D050683:R-SNARE Proteins; C106071:SHOX protein, human; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D000074122:Short Stature Homeobox Protein; C121241:VAMP7 protein, human
keywords: aneuploidies; gene dosages; sex chromosome