{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T16:23:47Z","timestamp":1791908627977,"version":"4.3.4"},"reference-count":22,"publisher":"SAGE Publications","issue":"11","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"The Science and Technology Project in Wuzhou","award":["No.202302103"],"award-info":[{"award-number":["No.202302103"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:p>We present here, a case of a neonate with an unbalanced chromosomal translocation due to a maternal chromosomal translocation carriage that resulted in the presence of trisomy 9p combined with a partial trisomy 12p. Karyotype analysis was performed using conventional cytogenetic chromosomal analysis using the GTG-banding technique. The mother was a carrier of a balanced chromosomal translocation of 46, XX, t(9;12)(q13;p11.2), that resulted in an unbalanced translocation of the offspring, who had a karyotype 47, XX, +der(9)t(9;12)(q13;p11.2)dmat, featuring a combined trisomy of 9q13\u21929pter region and 12p11.2\u219212pter region. Clinical phenotype of the infant included cephalo-facial deformity, growth retardation, hypertonia, opisthotonus, laryngeal wheezing, foot deformity, and congenital heart disease.<\/jats:p>","DOI":"10.1177\/03000605241300093","type":"journal-article","created":{"date-parts":[[2024,11,29]],"date-time":"2024-11-29T13:51:16Z","timestamp":1732888276000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["An infant with trisomy 9p and partial trisomy 12p derived from maternal balanced translocation: A case report and literature review"],"prefix":"10.1177","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-6442-9898","authenticated-orcid":false,"given":"Shengjin","family":"Ming","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, Wuzhou Gongren Hospital, 1Gaodi Road, Wuzhou, 543001, Guangxi, 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