{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T17:58:54Z","timestamp":1762624734961,"version":"3.37.3"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,11,18]],"date-time":"2021-11-18T00:00:00Z","timestamp":1637193600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,11,18]],"date-time":"2021-11-18T00:00:00Z","timestamp":1637193600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Science and Technology Planning Projects of Zhuhai","award":["ZH2202200063HJL"],"award-info":[{"award-number":["ZH2202200063HJL"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Cytogenet"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Objective<\/jats:title>\n                <jats:p>We present a genetic analysis of an asymptomatic family with a 4q terminal deletion; we also review other similar published studies and discuss the genotype\u2013phenotype correlation.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>A karyotype analysis was performed on the amniotic fluid cells of a woman at 24\u00a0weeks of pregnancy and peripheral blood lymphocytes from both parents and their older son with the conventional G-banding technique. Chromosomal microarray analysis (CMA) testing was carried out for both parents and the fetus to analyze copy number variation (CNV) in the whole genome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The results showed no abnormalities in the karyotypes of the father and older son, and the karyotypes of the mother and fetus were 46,XX,del(4)(q35.1) and 46,XY,del(4)(q35.1), respectively. CMA results showed a partial deletion at the 4q terminus in both the fetus and mother. The deletion region of the fetus was arr[GRCh37] 4q35.1q35.2(186,431,008_190,957,460)\u2009\u00d7\u20091; the loss size of the CNV was approximately 4.5\u00a0Mb and involved 14 protein-coding genes, namely, <jats:italic>CYP4V2, F11, FAM149A, FAT1, FRG1, FRG2, KLKB1, MTNR1A, PDLIM3, SORBS2, TLR3, TRIML1, TRIML2,<\/jats:italic> and <jats:italic>ZFP42<\/jats:italic>. No variation on chromosome 4 was detected in the father\u2019s CMA results.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Deletion of the 4q subtelomeric region is a familial variation. The arr[GRCh37] 4q35.1q35.2(186,431,008_190,957,460) region single-copy deletion did not cause obvious congenital defects or mental retardation. The application of high-resolution genetic testing technology combined with the analysis of public genetic database information can more clearly elucidate the genotype\u2013phenotype correlation of the disease and provide support for both prenatal and postnatal genetic counseling.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13039-021-00573-y","type":"journal-article","created":{"date-parts":[[2021,11,18]],"date-time":"2021-11-18T12:03:12Z","timestamp":1637236992000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review"],"prefix":"10.1186","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6990-8901","authenticated-orcid":false,"given":"Gefei","family":"Xiao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianrong","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuqiu","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gongjun","family":"Tan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yao","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,11,18]]},"reference":[{"issue":"4","key":"573_CR1","first-page":"379","volume":"21","author":"R Li","year":"2004","unstructured":"Li R, Zhao ZY, Pai S. Chromosome microdeletions detected in mental retardation. Chin J Med genet. 2004;21(4):379\u201381.","journal-title":"Chin J Med genet"},{"issue":"2","key":"573_CR2","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1038\/ng0295-132","volume":"9","author":"J Flint","year":"1995","unstructured":"Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet. 1995;9(2):132\u201340.","journal-title":"Nat Genet"},{"issue":"6","key":"573_CR3","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1136\/jmg.2005.036350","volume":"43","author":"JB Ravnan","year":"2006","unstructured":"Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, et al. Subtelomere FISH analysis of 11688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. 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The pregnant woman provided written informed consent for the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of examination images and the patients' clinical details were obtained from the patients.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"53"}}