{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T18:15:21Z","timestamp":1787508921757,"version":"build-2736575974"},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,7,12]],"date-time":"2025-07-12T00:00:00Z","timestamp":1752278400000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Microarray is considered the first step in the diagnostic test in patients with multiple congenital anomalies (MCA). This technique can detect small copy number variations (CNVs) in DNA and help to understand the genetic causes in newborns.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials &amp; Methods<\/jats:title>\n                    <jats:p>The present study investigated a group of 63 newborns with MCA during the study period. Microarray analysis was performed on newborns with MCA after excluding those with examination results suggesting a recognizable numerical chromosome anomaly and a history of teratogenicity. The observed CNVs were examined in databases, pathogenicity evaluation was performed, and the variations were compared with the results reported in the patient database.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 11 of 50 patients (22%) included in the study had 13 CNVs. Variations in the literature were observed in nine of the previously described cases, while the other four CNVs were described for the first time. Among the detected CNVs, nine were pathogenic, one was likely pathogenic, and three were of uncertain clinical significance (VOUS). The variation in four patients was de novo, two were paternally inherited, and one was maternally inherited. All 11 patients with CNVs had congenital heart defects, 9 had craniofacial dysmorphism, 8 had extremity anomalies, 4 had hydronephrosis, 3 had cleft lip and\/or palate, 2 had proximal hypospadias, and other rare congenital anomalies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Microarray application in newborns with MCA is of great importance in terms of clinical guidance and genetic counseling. With the increase in relevant studies, the interpretation of previously unidentified CNVs with clinical results will contribute to patient management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/bdr2.2509","type":"journal-article","created":{"date-parts":[[2025,7,12]],"date-time":"2025-07-12T07:28:11Z","timestamp":1752305291000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Microarray Application in Newborns With Multiple Congenital Anomalies: Genotype\u2013Phenotype Correlation"],"prefix":"10.1002","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8753-2541","authenticated-orcid":false,"given":"Ramazan","family":"Ke\u00e7eci","sequence":"first","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics Konya City Hospital  Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayriye Nermin","family":"Ke\u00e7eci","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics Konya City Hospital  Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00fc\u015ferref","family":"Ba\u015fdemirci","sequence":"additional","affiliation":[{"name":"Medical Genetics Konya City Hospital  Konya Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23240"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10832"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2013.847420"},{"key":"e_1_2_8_5_1","article-title":"Infant Mortality in the United States, 2017: Data From the Period Linked Birth\/Infant Death File","volume":"68","author":"Ely D. M.","year":"2019","journal-title":"National Vital Statistics Reports"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.j2249"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2019.39.3.299"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2017.07.004"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-022-00623-z"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-0297"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-018-0467-z"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12947-019-0159-x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0045530"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.129"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-016-0376-z"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/5584_2016_235"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.2153"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2024.39.e250"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-007-0645-2"}],"container-title":["Birth Defects Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.2509","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T09:56:33Z","timestamp":1757325393000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdr2.2509"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":18,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1002\/bdr2.2509"],"URL":"https:\/\/doi.org\/10.1002\/bdr2.2509","archive":["Portico"],"relation":{},"ISSN":["2472-1727","2472-1727"],"issn-type":[{"value":"2472-1727","type":"print"},{"value":"2472-1727","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7]]},"assertion":[{"value":"2025-04-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2509"}}