Molecular Cytogenetics最新文献

{"title":"Using SNP microarray to distinguish mosaicism from chimerism in a phenotypically normal male newborn with prenatal 46,XX/46,XY karyotype.","authors":"Jo-Ching Chen, Pen-Hua Su, Yiin-Jeng Jong, Pin-Chia Huang, Szu-Yin Cheng, Yi-Hui Lin","doi":"10.1186/s13039-026-00776-1","DOIUrl":"10.1186/s13039-026-00776-1","url":null,"abstract":"<p><strong>Background: </strong>The coexistence of 46,XX/46,XY cells in cultured amniotic fluid sample is not uncommon. The vast majority of these cases are the result of contamination by maternal cells in an otherwise normal male fetus. However, this finding might be true chimera or mosaicism, which can be associated with sexual ambiguity. Conventional cytogenetic study could not exclude these abnormalities. Here, we present a case of 46,XX/46,XY at amniocentesis and ascertained a mosaicism by postnatal single nucleotide polymorphism (SNP) array in a phenotypic male newborn.</p><p><strong>Case presentation: </strong>A fetus of a 37-year-old nulliparous woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Chromosome analysis of the first and second samples revealed a mixture of 46,XX and 46,XY cell lines. Prenatal ultrasound examination showed normal male genitalia. After birth, peripheral blood samples were analyzed by karyotyping, fluorescence in situ hybridization (FISH), SNP array, and short tandem repeat (STR) analysis. These studies confirmed 46,XX/46,XY mosaicism in a phenotypically normal male newborn.</p><p><strong>Conclusion: </strong>Our case is the second report of 46,XX/46,XY mosaicism noted by prenatal cytogenetic study and confirmed by postnatal SNP array with normal male genitalia. When encountering XX/XY in prenatal diagnosis, SNP array is a useful tool to distinguish maternal cell contamination from chimera or mosaicism. Detailed prenatal ultrasound for the genitalia is required for the prediction of prognosis. The fetus may have a favorable outcome without ultrasound abnormalities.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13617865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148382301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Previously unreported translocation (14;15)(q32; q11.2) observed in B-cell acute lymphoblastic leukemia: a case report.","authors":"Maliha Naz, Jawad Hassan, Neelum Mansoor","doi":"10.1186/s13039-026-00767-2","DOIUrl":"10.1186/s13039-026-00767-2","url":null,"abstract":"<p><p>t(14;15) have rarely been seen in hematologic malignancies. Here we have reported a case of a 4-year-old male who presented with low grade fever and body aches and, was diagnosed on immunophenotyping as B-cell Acute Lymphoblastic Leukemia. Cytogenetic analysis demonstrated a previously unreported translocation t(14;15)(q32;q11.2). Fluorescent in situ hybridization (FISH) analysis on metaphases was also carried out to confirm the chromosomal aberration. To our knowledge, such a translocation has not been reported in hematological malignancy specifically in B-cell ALL.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13543553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148284108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical presentation and genotype-phenotype correlation of a novel pure duplication of 6p25.2-p22.3: a case report and literature review.","authors":"Huamei Tang, Xiaoqing Xu, Wei Wu, Yuxue Wang, Yuying He, Junying Qiu, Tong Ou","doi":"10.1186/s13039-026-00774-3","DOIUrl":"10.1186/s13039-026-00774-3","url":null,"abstract":"<p><p>Duplication of 6p is a rare genetic syndrome of which about 25% have one or more congenital cardiac defects including cardiac septal defects, pulmonary artery hypoplasia and patent ductus arteriosus. We present the first case of a fetus with functional single ventricle and persistent truncus arteriosus during prenatal diagnosis whose genomic analysis revealed a novel pure duplication of 6p25.2-p22.3. The duplication fragment was confirmed to be associated with intrachromosomal insertion from mother via chromosome karyotype. The presentation of this case aims to expand the existing knowledge regarding this rare condition and facilitate its diagnosis in the future. Based on the comparison of cases with 6p duplication syndrome, we notice that the 6p terminal region, especially at 6p25.1 to 6p25.2, could be the critical region associated with heart complications or anomalies of the pulmonary arteries. The duplication of the potential modifier genes, RIPK1 and FARS2, were proposed to be attributed to heart defects in our study and should be further researched.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13543468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148278158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of tubulin gene variants in patients with dandy-walker malformation: expanding the spectrum of tubulinopathies.","authors":"Katsuya Ueno, Koichiro Higasa, Mikio Hayashi, Haruna Isozaki, Mayuko Miyata, Nobuaki Naito, Yi Li, Junichi Takeda, Masahiro Nonaka","doi":"10.1186/s13039-026-00772-5","DOIUrl":"10.1186/s13039-026-00772-5","url":null,"abstract":"<p><p>Dandy-Walker malformation (DWM) is a condition characterized by a cyst in the posterior cranial fossa contiguous with the fourth ventricle, combined with complete or partial agenesis of the cerebellar vermis; and elevation of the cerebellar tentorium, torcular Herophili, and transverse sinuses. DWM has been linked to specific genetic variants, with pathogenic or likely pathogenic variants reported in FOXC1, ZIC1, and ZIC4. Variants in the TUBB2B and TUBB3 genes are associated with abnormalities in tubulin, leading to cerebellar hypoplasia. In our study, three patients diagnosed with DWM underwent whole-genome analysis using next-generation sequencing, and two were found to have heterozygous variants in the tubulinopathy-associated genes TUBB2B and TUBB3, respectively. These findings indicate that some cases previously diagnosed as DWM may fall under the spectrum of tubulinopathies associated with cerebellar hypoplasia.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13528077/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148272187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular cytogenetics provides insights into heterochromatin composition and karyotypic evolution in species of the Plebeia group (Apidae: Meliponini).","authors":"Cristiano Lula Campos, Gisele Amaro Teixeira, Denilce Meneses Lopes, Ana Maria Waldschmidt","doi":"10.1186/s13039-026-00775-2","DOIUrl":"10.1186/s13039-026-00775-2","url":null,"abstract":"<p><strong>Background: </strong>The Plebeia group, including Plebeia, Lestrimelitta, and Friesella, requires clearer taxonomic resolution. Plebeia is the polyphyletic: species in clade II are more closely related to Friesella and Lestrimelitta than to their congeners in clade I, which are more restricted to the Amazon biome, and Central and North America. Molecular cytogenetic studies in Meliponini have shown the important role of heterochromatin in karyotypic evolution and species diversification. In this study, we compared heterochromatic repetitive sequences in the Plebeia group to better understand its evolutionary patterns and diversification.</p><p><strong>Results: </strong>For this, we hybridized a probe of highly and moderately repetitive DNA from the Friesella schrottkyi genome (here called FSch-C₀t probe) onto the chromosomes of F. schrottkyi, Lestrimelitta limao, and some Plebeia species from clade II to investigate whether repetitive sequences constituting heterochromatin are shared among species. Additionally, we mapped the microsatellite (GA)_n in four Plebeia species from clade II as a control experiment, as it typically shows general euchromatic hybridization patterns in stingless bees. The FSch-C₀t probe labeled all heterochromatin in F. schrottkyi and was restricted to the centromeric heterochromatin in analyzed Plebeia species from clade II, indicating the sharing of repetitive sequences in part of the heterochromatin between these two genera. However, the FSch-C₀t did not yield signals in the AT-rich regions of L. limao, which likely correspond to heterochromatin, suggesting a variation in the heterochromatic composition compared to that of F. schrottkyi and analyzed Plebeia species from clade II. In addition, FSch-C₀t signals were detected in some terminal regions of the chromosomes in Plebeia spp. and L. limao, potentially corresponding to telomeric sequences. Microsatellite (GA)_n was located on one of the chromosomal arms in the euchromatic regions of the four Plebeia taxa, following a trend reported for other Meliponini.</p><p><strong>Conclusion: </strong>Our data reveal a dynamic evolution of heterochromatic composition in the Plebeia group, with hypotheses regarding its diversification discussed in light of available phylogenies.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13579972/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148258975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A fetus with paternal uniparental isodisomy of chromosome 3: genetic analysis and prenatal diagnosis following a positive NIPS with IUGR.","authors":"Fang Zhang, ShanShan Ma, Yongan Wang, Shuai Men, Rong Zhang, Ting Yin","doi":"10.1186/s13039-026-00773-4","DOIUrl":"10.1186/s13039-026-00773-4","url":null,"abstract":"<p><strong>Objective: </strong>To report a rare prenatal case of paternal uniparental isodisomy of chromosome 3 (upd(3)pat) associated with isolated intrauterine growth restriction (IUGR).</p><p><strong>Methods: </strong>Expanded non‑invasive prenatal screening (NIPS) in a 19‑year‑old woman indicated a duplication on chromosome 3q. Amniocentesis was performed for karyotyping, chromosomal microarray analysis (CMA), and trio whole‑exome sequencing (WES). Copy number variation sequencing (CNV-seq) was performed for the validation of the placental tissue postpartum.</p><p><strong>Results: </strong>Karyotype was normal (46,XY). CMA revealed a whole-chromosome region of homozygosity (ROH) on chromosome 3, and WES confirmed upd(3)pat with no recessive pathogenic variants. Third‑trimester ultrasound showed IUGR. A male infant weighing 2,450 g was delivered at 38 weeks with normal birth examination. CNV-seq confirmed trisomy 3 on the fetal side of the placenta. Follow-up assessment at 2.5 years of age showed unremarkable neurodevelopmental outcomes.</p><p><strong>Conclusion: </strong>NIPS is a screening rather than a diagnostic test and all positive findings must be confirmed by invasive diagnostic procedures. Trisomy rescue can lead to coexistence of UPD3 with confined placental mosaicism (CPM). A multimodal approach incorporating karyotyping, CMA, trio‑WES, and CNV‑seq is essential for resolving discordant findings. This study expands the limited prenatal literature on upd(3)pat and highlights the critical importance of comprehensive genetic testing for accurate diagnosis and genetic counseling.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13531816/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148259017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combined optical genome mapping and cnv-seq identify complex Y-chromosome rearrangements and ectopy in 46,XX testicular disorder of sex development.","authors":"Hai Wang, Hao Wang, Zitong Xu, Penglong Chen, Xianjue Zheng, Haojie Pan, Hongping Zhang, Jiayong Zheng","doi":"10.1186/s13039-026-00771-6","DOIUrl":"10.1186/s13039-026-00771-6","url":null,"abstract":"<p><strong>Objective: </strong>To define the genomic architecture of Y‑chromosome ectopy in a child with 46,XX testicular disorders of sex development (DSD) and illustrate the complementary roles of low‑coverage CNV sequencing (CNV‑seq) and optical genome mapping (OGM).</p><p><strong>Methods: </strong>A one‑and‑a‑half‑year‑old child with male phenotype, unfused scrotum, and hypospadias underwent clinical assessment and Doppler ultrasound, karyotyping, whole‑exome sequencing (WES), CNV‑seq, and OGM. CNV‑seq data were aligned to GRCh37; OGM maps were aligned to GRCh38 with T2T‑CHM13 consulted for Y display. Coordinates were harmonized for interpretation. FISH and long‑range PCR targeting the full SRY locus were not performed.</p><p><strong>Result: </strong>Ultrasound showed bilateral scrotal testes, with no uterus or ovarian tissue. Karyotype was 46,XX, inv(9)(p12q13). CNV-seq identified called losses at Xp22.33 (287,328-3,605,487) and within Yp11.31-p11.2 (2,649,472-6,065,425) and Yp11.2 (7,270,527-9,599,178). OGM resolved a derivative X containing an insertion of Yp sequence at Xp22.33, with three re-join events in Yp11.2, including a deleted interval (~ 6.2-7.3 Mb) and a local inversion (~ 7.3-9.9 Mb); the call was ogm[GRCh38] der(X)(Ypter_Yp11.2::Yp11.2::Xp22.33_Xqter)(Ypter_6248448::9915169_7362950::3618476_Xqter). Harmonized coordinates indicate that the retained Yp11.3 interval includes SRY and is inserted into der(Xp22.33), supporting SRYpositive 46,XX testicular DSD on a coordinate basis. The Xp22.33 deletion supports counseling regarding SHOX haploinsufficiency-related growth surveillance.</p><p><strong>Conclusion: </strong>CNV-seq and OGM deliver nonredundant, genomewide dosage and architectural resolution that localizes the insertion site, defines breakpoint orientation, and provides counseling-relevant information beyond karyotype and WES. The coordinate-based inference of SRY and PAR1 involvement demonstrates a practical framework for integrating structural genomics into DSD diagnostics.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13505123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148252509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chromosomal abnormalities and copy number variations in fetuses with ventriculomegaly: a multicenter retrospective study.","authors":"Anh Huu Duc Nguyen, Phan Duc Tran, Phuc Hong Dinh, Trang Thi Dao, Ngoc Thi Minh Nguyen, Anh Thi Lan Luong, Lan Thi Ngoc Hoang, Phuong Thi Kim Doan, Hung Trong Mai, Linh Thuy Dinh, Vuong The Pham, Giang Thi Thu Phan, Thang Duc Bui, Linh Thuy Tran, Cuong Danh Tran","doi":"10.1186/s13039-026-00768-1","DOIUrl":"10.1186/s13039-026-00768-1","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to analyze chromosomal characteristics and copy number variations (CNVs) in fetuses with ventriculomegaly (VM), thereby comparing genetic features between the isolated VM group and the non-isolated VM. Simultaneously evaluate the efficacy of karyotyping and CNV analysis in prenatal diagnosis of fetuses with VM.</p><p><strong>Methods: </strong>This retrospective cross-sectional study included 78 fetuses diagnosed with VM at the Prenatal Diagnosis Center, National Hospital of Obstetrics and Gynecology, the Clinical Genetics Center, Hanoi Medical University Hospital, and the Prenatal Diagnosis Center, Hanoi Obstetrics and Gynecology Hospital from January 2023 to December 2024. Genetic testing methods included conventional karyotyping and CNV analysis.</p><p><strong>Results: </strong>Chromosomal abnormalities were detected in 14.1% (11/78) of cases by karyotyping, while CNVs were identified in 17.9% (14/78). CNVs were significantly more frequent in the non-isolated VM group compared to the isolated group (29.4% vs. 9.1%, p = 0.02). Both methods concordantly detected six cases of aneuploidy. Three cases of microdeletions/duplications were detected by CNV analysis, while karyotyping revealed no abnormalities. An additional four cases with chromosomal structural abnormalities detected by karyotyping had their deletion/duplication segments precisely characterized for size and location through CNV analysis.</p><p><strong>Conclusion: </strong>Genetic testing using amniotic fluid samples should be considered an essential component in the prenatal diagnostic approach to VM. Non-isolated VMs exhibit significantly higher CNV risk than isolated VMs. CNV analysis enhances diagnostic efficacy for genetic abnormalities compared to karyotyping, while simultaneously facilitating genetic variant classification, thereby providing more detailed information for prognostic assessment. The combined approach of karyotyping and CNV analysis improves the detection rate of genetic abnormalities, supporting enhanced genetic counseling and superior pregnancy management.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13430786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148043129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optical genome mapping uncovers disease-defining variants in an adult T-lymphoblastic leukemia and impacts prognosis.","authors":"Amanda M Maxfield, Michelle A Bickford, Kyle A Tonseth, Jing Bao, Farzana Murad, Devon N Wilson, Lauren M Wainman, John M Hill, Liam L Donnelly, Prabhjot Kaur, Laura J Tafe, Jeremiah X Karrs, Wahab A Khan","doi":"10.1186/s13039-026-00770-7","DOIUrl":"10.1186/s13039-026-00770-7","url":null,"abstract":"<p><strong>Background: </strong>Adult T-lymphoblastic leukemia often harbors cryptic structural variants that remain undetected by standard cytogenetic and targeted molecular testing, limiting precise risk stratification and therapeutic planning. This case is notable for the use of optical genome mapping (OGM) to uncover multiple disease-defining and likely oncogenic genomic alterations in an adult patient with newly diagnosed T-lymphoblastic leukemia. The report highlights how comprehensive structural variant profiling can refine prognosis and identify clinically meaningful aberrations that would otherwise be missed in routine practice.</p><p><strong>Case presentation: </strong>A 29-year-old man presented with fever, chills, dyspnea, headache, petechiae, and was found to have pancytopenia. Bone marrow biopsy showed a hypercellular marrow with approximately 95% involvement by T-lymphoblasts and residual trilineage hematopoiesis. Flow cytometry demonstrated a T-lymphoblastic immunophenotype with expression of cytoplasmic CD3, CD7, terminal deoxynucleotidyl transferase (TdT), absent surface CD3, CD20, CD34, CD117, and myeloperoxidase. Conventional workup with fluorescence in situ hybridization (FISH) initially detected a CDKN2A loss but did not fully define prognosis. OGM revealed a deletion involving FBXW7, a TLX3::BCL11B fusion (subsequently confirmed by FISH), a hemizygous deletion involving PHF6, a duplication involving MYB, and a deletion involving CDKN2A, while next-generation sequencing identified a NOTCH1 missense variant at approximately 50% variant allele fraction. A normal male karyotype was detected at post-induction staging. The patient was counseled on the overall favorable prognostic markers and started on induction therapy using the AALL1231 regimen for T‑lymphoblastic leukemia, including protocol-directed incorporation of bortezomib.</p><p><strong>Conclusions: </strong>OGM revealed multiple clinically relevant structural variants and partner genes impacted in adult T-lymphoblastic leukemia that were not part of the standard cytogenetic workup, thereby improving genomic characterization and risk assessment. Identification of alterations involving FBXW7, NOTCH1, TLX3::BCL11B, PHF6, MYB, and CDKN2A provided a comprehensive genomic profile that informed counseling regarding prognosis and supported treatment selection. Integrating OGM into routine evaluation of myeloid and lymphoid neoplasms has the potential to streamline diagnostic workflows and ensure that disease-defining aberrations critical for diagnosis, prognosis, and targeted therapy selection are not overlooked.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13377857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148016672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 5p13.3p13.2 microduplication in a Chinese family.","authors":"Wei Wang, Lin Zhan, Lu Xu, Pei Leng","doi":"10.1186/s13039-026-00769-0","DOIUrl":"10.1186/s13039-026-00769-0","url":null,"abstract":"<p><strong>Background: </strong>Copy number variants (CNVs) represent a significant source of genomic diversity, encompassing both benign and pathogenic variations. The accurate interpretation of CNVs identified during prenatal diagnosis is crucial for appropriate genetic counseling and management. The literature on 5p13.3p13.2 microduplication is rare, which is a challenge for genetic counseling.</p><p><strong>Materials and methods: </strong>A 35-year-old, gravida 2, para 1, woman underwent amniocentesi at 18 weeks of gestation due to advanced maternal age. We performed conventional karyotyping, chromosomal microarray analysis (CMA) and quartet whole-exome sequencing (WES) on this family.</p><p><strong>Results: </strong>We report a case of prenatal diagnosis and genetic counseling of a paternally inherited 5p13.3p13.2 microduplication. In this family, both the father and the fetus carry the identical microduplication yet exhibit a normal phenotype.</p><p><strong>Conclusion: </strong>Submicroscopic chromosomal microdeletions and microduplications are often undetectable by conventional cytogenetics. The integration of prenatal ultrasound, karyotyping, CMA, and WES is therefore essential for accurate diagnosis.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13352678/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147964247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}