{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T12:11:14Z","timestamp":1779192674166,"version":"3.51.4"},"reference-count":23,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2016,10,19]],"date-time":"2016-10-19T00:00:00Z","timestamp":1476835200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2016,12,1]]},"abstract":"<jats:p>\n                    <jats:italic toggle=\"yes\">Aims:<\/jats:italic>\n                    In this study, we examined the doses of the stature homeobox (\n                    <jats:italic toggle=\"yes\">SHOX<\/jats:italic>\n                    ), vesicle-associated membrane protein 7 (\n                    <jats:italic toggle=\"yes\">VAMP7)<\/jats:italic>\n                    , and\n                    <jats:italic toggle=\"yes\">SRY<\/jats:italic>\n                    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.\n                    <jats:italic toggle=\"yes\">Materials and Methods:<\/jats:italic>\n                    This was an observational, descriptive, comparative blind study. Thirty-two healthy young adults (17 women, 15 men; age, \u226518 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.\n                    <jats:italic toggle=\"yes\">Results:<\/jats:italic>\n                    Men and women differed in the gene dosage of the\n                    <jats:italic toggle=\"yes\">SRY<\/jats:italic>\n                    gene. Cases with Turner syndrome showed values below 3 SDs for\n                    <jats:italic toggle=\"yes\">SHOX<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">VAMP7<\/jats:italic>\n                    genes, and cases with Klinefelter syndrome showed values above 3 SDs for\n                    <jats:italic toggle=\"yes\">SHOX<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">VAMP7<\/jats:italic>\n                    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.\n                    <jats:italic toggle=\"yes\">Conclusions:<\/jats:italic>\n                    Our data establish a basis for the determination of chromosomal sex and neonatal screening of sex chromosome aneuploidy using RT-PCR.\n                  <\/jats:p>","DOI":"10.1089\/gtmb.2016.0101","type":"journal-article","created":{"date-parts":[[2016,10,19]],"date-time":"2016-10-19T14:58:14Z","timestamp":1476889094000},"page":"786-790","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy"],"prefix":"10.1177","volume":"20","author":[{"given":"Luis Daniel","family":"Campos-Acevedo","sequence":"first","affiliation":[{"name":"Universidad Aut\u00f3noma de Nuevo Le\u00f3n (UANL)","place":["M\u00e9xico"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marisol","family":"Ibarra-Ramirez","sequence":"additional","affiliation":[{"name":"Universidad Aut\u00f3noma de Nuevo Le\u00f3n (UANL)","place":["M\u00e9xico"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"de Jes\u00fas Lugo-Trampe","sequence":"additional","affiliation":[{"name":"Universidad Aut\u00f3noma de Nuevo Le\u00f3n (UANL)","place":["M\u00e9xico"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"de Jes\u00fas Zamudio-Osuna","sequence":"additional","affiliation":[{"name":"Universidad Aut\u00f3noma de Nuevo Le\u00f3n (UANL)","place":["M\u00e9xico"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iris","family":"Torres-Mu\u00f1oz","sequence":"additional","affiliation":[{"name":"Universidad Aut\u00f3noma de Nuevo Le\u00f3n (UANL)","place":["M\u00e9xico"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma","family":"del Roble Velasco-Campos","sequence":"additional","affiliation":[{"name":"Universidad Aut\u00f3noma de Nuevo Le\u00f3n (UANL)","place":["M\u00e9xico"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luz","family":"Rojas-Patlan","sequence":"additional","affiliation":[{"name":"Universidad Aut\u00f3noma de Nuevo Le\u00f3n (UANL)","place":["M\u00e9xico"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ir\u00e1m Pablo","family":"Rodr\u00edguez-S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Universidad Aut\u00f3noma de Nuevo Le\u00f3n (UANL)","place":["M\u00e9xico"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura Elia","family":"Mart\u00ednez-de-Villarreal","sequence":"additional","affiliation":[{"name":"Universidad Aut\u00f3noma de Nuevo Le\u00f3n (UANL)","place":["M\u00e9xico"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2016,10,19]]},"reference":[{"key":"e_1_3_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/apa.12008"},{"key":"e_1_3_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.05.037"},{"key":"e_1_3_4_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021491"},{"key":"e_1_3_4_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1374"},{"key":"e_1_3_4_6_1","doi-asserted-by":"publisher","DOI":"10.1208\/s12248-012-9430-x"},{"key":"e_1_3_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:5<404::AID-HUMU8>3.0.CO;2-S"},{"key":"e_1_3_4_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-15-329"},{"key":"e_1_3_4_9_1","first-page":"641","article-title":"A simple method for extraction and purification of genomic DNA from dried blood spots on filter paper","volume":"34","author":"Chaisomchit S","year":"2003","unstructured":"Chaisomchit S, , Wichajarn R, , Chowpreecha S, et al. (2003) A simple method for extraction and purification of genomic DNA from dried blood spots on filter paper. Southeast Asian J Trop Med Public Health, 34:641-645.","journal-title":"Southeast Asian J Trop Med Public Health"},{"key":"e_1_3_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1701-2163(16)34961-1"},{"key":"e_1_3_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.phrp.2014.09.005"},{"key":"e_1_3_4_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.63"},{"key":"e_1_3_4_13_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2011.0109"},{"key":"e_1_3_4_14_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2014.0236"},{"key":"e_1_3_4_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(13)70153-0"},{"key":"e_1_3_4_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2004.049817"},{"key":"e_1_3_4_17_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.1.2.99"},{"key":"e_1_3_4_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(60)90138-5"},{"key":"e_1_3_4_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gaq027"},{"key":"e_1_3_4_20_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0030-1253351"},{"key":"e_1_3_4_21_1","first-page":"749","article-title":"A three-step molecular protocol employing DNA obtained from dried blood spots for neonatal screening for 45,X Turner syndrome","volume":"4","author":"Rocha MN","year":"2005","unstructured":"Rocha MN, , Melo MR, , Longui CA, et al. (2005) A three-step molecular protocol employing DNA obtained from dried blood spots for neonatal screening for 45,X Turner syndrome. Genet Mol Res, 4:749-754.","journal-title":"Genet Mol Res"},{"key":"e_1_3_4_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)90287-X"},{"key":"e_1_3_4_23_1","first-page":"200","article-title":"Expanded newborn screening using tandem mass spectrometry: two years\u2019 experience in Nuevo Le\u00f3n, Mexico","volume":"50","author":"Torres-Sep\u00falveda M","year":"2008","unstructured":"Torres-Sep\u00falveda M, , Mart\u00ednez-de Villarreal L, , Esmer C, et al. (2008) Expanded newborn screening using tandem mass spectrometry: two years\u2019 experience in Nuevo Le\u00f3n, Mexico. Salud Publica Mex, 50:200-206.","journal-title":"Salud Publica Mex"},{"key":"e_1_3_4_24_1","first-page":"281","article-title":"Principles and practice of mass screening for disease","volume":"65","author":"Wilson JM","year":"1968","unstructured":"Wilson JM, , Jungner YG (1968) [Principles and practice of mass screening for disease]. Bol Oficina Sanit Panam, 65:281-393.","journal-title":"Bol Oficina Sanit Panam"}],"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/gtmb.2016.0101","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2016.0101","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2016.0101","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T12:03:06Z","timestamp":1779192186000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/gtmb.2016.0101"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10,19]]},"references-count":23,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2016,12,1]]}},"alternative-id":["10.1089\/gtmb.2016.0101"],"URL":"https:\/\/doi.org\/10.1089\/gtmb.2016.0101","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10,19]]}}}