{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:18:04Z","timestamp":1777727884589,"version":"3.51.4"},"reference-count":16,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:p>Copy number variations (CNVs) in chromosome 16p11.2 (deletions and duplications) are not rare. 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. Here, we report the prenatal diagnosis and genetic counseling of a maternally inherited 16p11.2 microdeletion. In this family, the mother and fetus both have a normal phenotype and the same microdeletion. Following the use of molecular genetic techniques, including array-based methods, the number of reported cases has rapidly increased. The combination of prenatal ultrasound, karyotype analysis, chromosomal microarray analysis (CMA), and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions\/microduplications.<\/jats:p>","DOI":"10.1177\/03000605221109400","type":"journal-article","created":{"date-parts":[[2022,7,9]],"date-time":"2022-07-09T01:25:35Z","timestamp":1657329935000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2"],"prefix":"10.1177","volume":"50","author":[{"given":"Meihua","family":"Li","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Maternal and Child Health Hospital of Dongxihu District, Wuhan, Hubei, PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linlin","family":"Liu","sequence":"additional","affiliation":[{"name":"Institute of Health Inspection and Testing, Hubei Provincial Center for Disease Control and Prevention, Wuhan, Hubei, PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yijun","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Huanggang Central Hospital, Huanggang, Hubei, PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3925-7415","authenticated-orcid":false,"given":"Jian","family":"Guan","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Maternal and Child Health Hospital of Xiaogan, Xiaogan, Hubei, PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,7,8]]},"reference":[{"key":"bibr1-03000605221109400","doi-asserted-by":"publisher","DOI":"10.1038\/s41398-018-0339-8"},{"key":"bibr2-03000605221109400","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0102-x"},{"key":"bibr3-03000605221109400","unstructured":"International System of Cytogenomic Nomenclature (ISCN 2020)."},{"key":"bibr4-03000605221109400","doi-asserted-by":"crossref","unstructured":"Liehr T. Benign & Pathological Chromosomal Imbalances, 1st Edition Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling.\n                      Academic Press\n                      2014. ISBN: 9780124046313.","DOI":"10.1016\/B978-0-12-404631-3.00001-5"},{"key":"bibr5-03000605221109400","unstructured":"Miller DT, Chung W, Nasir R, et\u00a0al. 16p11.2 Recurrent Microdeletion. In: GeneReviews, 2015."},{"key":"bibr6-03000605221109400","first-page":"11","volume":"9","author":"Lihr T","year":"2018","journal-title":"Mol Cytogenet"},{"key":"bibr7-03000605221109400","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2020.09.001"},{"key":"bibr8-03000605221109400","doi-asserted-by":"publisher","DOI":"10.1186\/s13256-018-1587-1"},{"key":"bibr9-03000605221109400","doi-asserted-by":"publisher","DOI":"10.1001\/jamapsychiatry.2014.2147"},{"key":"bibr10-03000605221109400","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41398-018-0355-8","volume":"9","author":"Niarchou M","year":"2019","journal-title":"Transl Psychiatry"},{"key":"bibr11-03000605221109400","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2015.10.021"},{"key":"bibr12-03000605221109400","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1366-14.2014"},{"key":"bibr13-03000605221109400","doi-asserted-by":"publisher","DOI":"10.1007\/s11689-009-9037-4"},{"key":"bibr14-03000605221109400","doi-asserted-by":"publisher","DOI":"10.1001\/jamapsychiatry.2015.2123"},{"key":"bibr15-03000605221109400","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2014.04.021"},{"key":"bibr16-03000605221109400","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2019.09.022"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605221109400","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03000605221109400","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605221109400","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:50:41Z","timestamp":1777459841000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03000605221109400"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":16,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1177\/03000605221109400"],"URL":"https:\/\/doi.org\/10.1177\/03000605221109400","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7]]},"article-number":"03000605221109400"}}