Frontiers in Genetics | Cytogenomics section | New and Recent Articles https://www.frontiersin.org/journals/genetics/sections/cytogenomics RSS Feed for Cytogenomics section in the Frontiers in Genetics journal | New and Recent Articles en-us Frontiers Feed Generator,version:1 2026-05-12T23:26:25.839+00:00 60 https://www.frontiersin.org/articles/10.3389/fgene.2026.1769931 https://www.frontiersin.org/articles/10.3389/fgene.2026.1769931 <![CDATA[Case Report: Rare triple-line chromosome 9 mosaicism (47,XX,+del(9)(q13)/47,XX,+9/46,XX) associated with severe neurodevelopmental impairment and congenital anomalies]]> 2026-04-07T00:00:00Z Case Report Andreja ZagoracMirjana MiksićBoris ZagradišnikBojan KorparNadja Kokalj Vokač https://www.frontiersin.org/articles/10.3389/fgene.2026.1768485 https://www.frontiersin.org/articles/10.3389/fgene.2026.1768485 <![CDATA[Low-dose X-Ray induced genetic damage in human peripheral blood lymphocytes]]> 2026-02-25T00:00:00Z Original Research Laura Camila Villalba-RondónLaura Vélez-LemusWilliam Jaramillo-GarzónMartín Pulido-MedellínNelson RangelMilena Rondón-Lagos https://www.frontiersin.org/articles/10.3389/fgene.2026.1723599 https://www.frontiersin.org/articles/10.3389/fgene.2026.1723599 <![CDATA[Pediatric-onset spinocerebellar ataxia type 3 with dual ATXN3 and HTT gene mutations: a case report and literature-informed hypothesis]]> 2026-02-10T00:00:00Z Case Report Dedong WangMengyao ZhouKang DuYue WangKunzhi TangYuanfang DuanMengting ShiHaohao Wu https://www.frontiersin.org/articles/10.3389/fgene.2025.1750362 https://www.frontiersin.org/articles/10.3389/fgene.2025.1750362 <![CDATA[The value of quantitative fluorescence polymerase chain reaction for the products of conception in the era of copy number variation sequencing]]> 2026-01-09T00:00:00Z Original Research Shaozhe YangHewei ZhangYongli WangQingwei ZhangYongyong WuXiuhong FuRongxiang Li https://www.frontiersin.org/articles/10.3389/fgene.2025.1540161 https://www.frontiersin.org/articles/10.3389/fgene.2025.1540161 <![CDATA[LDLRAD4 is a potential diagnostic and prognostic biomarker correlated with immune infiltration in myelodysplastic syndromes]]> 2025-10-29T00:00:00Z Original Research Mengjie XuShihao WuKaixiang ZhangLirong NieQinghua LiJihong ZhongYuming ZhangHonghua He https://www.frontiersin.org/articles/10.3389/fgene.2025.1610008 https://www.frontiersin.org/articles/10.3389/fgene.2025.1610008 <![CDATA[S100A10 knockdown exacerbates phenylephrine-induced cardiomyocyte hypertrophy via modulating mitochondrial oxidative phosphorylation]]> 2025-10-22T00:00:00Z Original Research Feixue XuYajie ChenMan XuDan LiYinshan LuMeng ZhangJiahao LiWanyi LiYingying Guo https://www.frontiersin.org/articles/10.3389/fgene.2025.1640775 https://www.frontiersin.org/articles/10.3389/fgene.2025.1640775 <![CDATA[DLL1 haploinsufficiency in prenatal brain anomalies: a retrospective analysis of 6q terminal deletions]]> 2025-10-20T00:00:00Z Original Research Tingting GeXiaojuan LinXinyuan TianXiaoyu SongBingbo ZhouLing HuiXiaozhuan WangZhiqiang ZhangChuan Zhang https://www.frontiersin.org/articles/10.3389/fgene.2025.1605461 https://www.frontiersin.org/articles/10.3389/fgene.2025.1605461 <![CDATA[Analysis of complex chromosomal structural variants through optical genome mapping integrated with karyotyping]]> 2025-08-25T00:00:00Z Original Research Xiaoxi ZhuHuiling ZhengXue WanHang DuanYing QiWeijia TangFan YangLimei Yu https://www.frontiersin.org/articles/10.3389/fgene.2025.1615268 https://www.frontiersin.org/articles/10.3389/fgene.2025.1615268 <![CDATA[Identification of key genes associated with infertile endometriosis based on bioinformatic analysis]]> 2025-07-23T00:00:00Z Original Research Linlin ChangHongjuan YeMin HouXin XieYang WangJie ChengRongxiang WangXiaocong ChenXinxin QuanLihua SunSongguo XueLiya Shi https://www.frontiersin.org/articles/10.3389/fgene.2025.1611388 https://www.frontiersin.org/articles/10.3389/fgene.2025.1611388 <![CDATA[Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities]]> 2025-06-25T00:00:00Z Original Research Yun GuoXiaoqin XinLinju ZhouJungao Huang 0.05). Chromosome microarray analysis detected abnormalities in 6.58% (5/76) of the isolated cardiac abnormalities group and 27.27% (6/22) in the group with combined abnormalities, showing a significant statistical difference (P < 0.05). Of the 12 positive cases, four were live births, eight were terminations, and postpartum cardiac abnormalities were found in two live births during follow-up.ConclusionChromosome microarray analysis has a higher detection rate in fetuses with cardiac abnormalities than traditional chromosome karyotyping, especially when fetal cardiac abnormalities are combined with other ultrasound abnormalities. It is recommended for clinical use to improve the detection of genetic alterations.]]> https://www.frontiersin.org/articles/10.3389/fgene.2025.1539902 https://www.frontiersin.org/articles/10.3389/fgene.2025.1539902 <![CDATA[Uncovering genetic contributors to developmental delay and intellectual disability: a focus on CNVs in pediatric patients]]> 2025-06-23T00:00:00Z Original Research Yilun TaoHongzhi GuoDong HanMiao YangTing LunLihong WangWenxia SongHaiwei WangXiaoze Li https://www.frontiersin.org/articles/10.3389/fgene.2025.1604822 https://www.frontiersin.org/articles/10.3389/fgene.2025.1604822 <![CDATA[Directional genomic hybridization (dGH™) identifies small inverted duplications in situ]]> 2025-06-23T00:00:00Z Original Research Thomas LiehrErin CrossStefanie Kankel https://www.frontiersin.org/articles/10.3389/fgene.2025.1502538 https://www.frontiersin.org/articles/10.3389/fgene.2025.1502538 <![CDATA[Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward]]> 2025-06-11T00:00:00Z Systematic Review Mengting JiangBin ZhangJing WangCui WeiXiuzhen MaoBin Yu https://www.frontiersin.org/articles/10.3389/fgene.2025.1569308 https://www.frontiersin.org/articles/10.3389/fgene.2025.1569308 <![CDATA[Hapten-labeled DNA probes can be stored and used in fluorescence in situ hybridization for decades]]> 2025-05-30T00:00:00Z Original Research Thomas LiehrNiklas PadutschStefanie Kankel https://www.frontiersin.org/articles/10.3389/fgene.2025.1555485 https://www.frontiersin.org/articles/10.3389/fgene.2025.1555485 <![CDATA[Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements]]> 2025-05-22T00:00:00Z Case Report Xiaohang HuJing GuoHaiyang SangJinyan YanHong ChangTing LiuHaixin DongMin KongYanjun TianLiqing Jiang https://www.frontiersin.org/articles/10.3389/fgene.2025.1546579 https://www.frontiersin.org/articles/10.3389/fgene.2025.1546579 <![CDATA[Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype]]> 2025-05-06T00:00:00Z Case Report Guoxing ZhongJiajia WuZeyan ZhongDina ChenZhiyang GuanShaohui HuangJianhong Chen https://www.frontiersin.org/articles/10.3389/fgene.2025.1544087 https://www.frontiersin.org/articles/10.3389/fgene.2025.1544087 <![CDATA[Karyotype and genome size analyses for two spiders of the lycosidae family]]> 2025-03-25T00:00:00Z Original Research Yuxuan ZhangMengying ZhangLiang LengYa WuHanting YangLiangting WangBaimei LiuShuai YangZizhong YangShilin ChenChi Song https://www.frontiersin.org/articles/10.3389/fgene.2025.1544565 https://www.frontiersin.org/articles/10.3389/fgene.2025.1544565 <![CDATA[Lessons from a phenotypically normal infant with uniparental isodisomy of chromosome 21: a Case Report and review]]> 2025-03-05T00:00:00Z Case Report Yuying ZhuKe WuCuicui JiangQiumin Zhu https://www.frontiersin.org/articles/10.3389/fgene.2024.1517270 https://www.frontiersin.org/articles/10.3389/fgene.2024.1517270 <![CDATA[Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies]]> 2025-01-13T00:00:00Z Original Research Jia-pei LiuShan-Bing WangLi LuoYa-mei Guo https://www.frontiersin.org/articles/10.3389/fgene.2024.1486974 https://www.frontiersin.org/articles/10.3389/fgene.2024.1486974 <![CDATA[Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome]]> 2024-10-15T00:00:00Z Original Research Yan ZhaoLina SongShuxia ZhangFei HouShan ShanHua Jin