Molecular Cytogenetics最新文献

{"title":"Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report.","authors":"Anibal Gaviria,&nbsp;Santiago Cadena-Ullauri,&nbsp;Francisco Cevallos,&nbsp;Patricia Guevara-Ramirez,&nbsp;Viviana Ruiz-Pozo,&nbsp;Rafael Tamayo-Trujillo,&nbsp;Elius Paz-Cruz,&nbsp;Ana Karina Zambrano","doi":"10.1186/s13039-022-00618-w","DOIUrl":"https://doi.org/10.1186/s13039-022-00618-w","url":null,"abstract":"<p><strong>Background: </strong>Hemophilia A is considered one of the most common severe hereditary disorders. It is an X-linked recessive disease caused by a deficiency or lack of function of the blood clotting factor VIII. Klinefelter syndrome is a genetic disorder that affects male individuals due to one or more extra X chromosomes, present in all cells or with mosaicism. The aneuploidy is due to either mitotic or meiotic chromosome non-disjunction. Chromosomal translocations are a group of genome abnormalities in which a region or regions of a chromosome break and are transferred to a nonhomologous chromosome or a new location in the same chromosome.</p><p><strong>Case presentation: </strong>Our subject was born in Ecuador at 36 weeks of gestation by vaginal delivery. At 3 months old, the Factor VIII activity measure showed a 23.7% activity indicating a diagnosis of mild hemophilia A. At 1 year old, the karyotype showed an extra X chromosome, consistent with a diagnosis of Klinefelter syndrome, and a translocation between the long arms of chromosomes 1 and 19, at positions q25 and q13, respectively.</p><p><strong>Conclusions: </strong>Klinefelter syndrome and hemophilia are a rare combination. In the present case report, the subject presents both, meaning that he has inherited one X chromosome from the father and one X chromosome from the mother. Since the father has severe hemophilia A; and the subject presents a below 40% Factor VIII activity, a skewed X inactivation is suggested. Additionally, the proband presents a translocation with the karyotype 47,XXY,t(1;19)(q25;q13). No similar report with phenotypic consequences of the translocation was found. The present report highlights the importance of a correct diagnosis, based not only on the clinical manifestations of a disease but also on its genetic aspects, identifying the value of integrated diagnostics. The subject presents three different genetic alterations, Klinefelter syndrome, hemophilia A, and a 1;19 chromosomal translocation.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":"40"},"PeriodicalIF":1.3,"publicationDate":"2022-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446752/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40351447","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 microduplication 18q11.1 to 18q11.2 in a chinese family.","authors":"Juan Chen, Ying Zhang, Mingxi Zhang","doi":"10.1186/s13039-022-00617-x","DOIUrl":"10.1186/s13039-022-00617-x","url":null,"abstract":"<p><strong>Background: </strong>Copy number variants are a substantial source of pathogenic or normal genome variations. Chromosomal imbalances of several megabasepair are normally harmful for the affected person. Still, rarely reported are so-called \"unbalanced chromosome abnormalities\" (UBCAs), which are either losses or gains or equally large genomic regions, but the carrier is only minimally clinically affected even no clinically affected. The knowledge of such UBCAs is imperative also in noninvasive prenatal testing (NIPT) or chromosomal microarray analysis.</p><p><strong>Case presentation: </strong>A paternally inherited dup(18)(q11.1q11.2) was identified in a over two generations in a Chinese family. The affected region encompasses 25 genes, among which GATA6 is expressed in fetal endothelial cells and mesodermal cells. GATA6 duplications and /or mutations have been seen in cases with congenital heart disease but also non-affected individuals, suggesting incomplete penetrance and variable expressivity.</p><p><strong>Conclusions: </strong>Duplications in the region of chromosome 18q11 have been rare reported previously in clinically healthy persons. Here a further family with an UBCA in 18q11 is added to the literature, suggesting a careful genetic counselling in prenatal diagnosis.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":"38"},"PeriodicalIF":1.3,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9434864/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40341399","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 of trisomy 8 mosaicism, initially identified by cffDNA screening.","authors":"Junjie Hu,&nbsp;Kai Yan,&nbsp;Pengzhen Jin,&nbsp;Yanmei Yang,&nbsp;Yixi Sun,&nbsp;Minyue Dong","doi":"10.1186/s13039-022-00616-y","DOIUrl":"https://doi.org/10.1186/s13039-022-00616-y","url":null,"abstract":"<p><strong>Background: </strong>So called cell-free fetal DNA (cffDNA) in the maternal plasma, which is derived from placenta, is widely used to screen fetal aneuploidies, including trisomy 21, 18, 13 and sex chromosomes. Here we reported a case of trisomy 8 mosaicism (T8M), which was initially identified via cffDNA screening in noninvasive prenatal testing (NIPT).</p><p><strong>Methods: </strong>A 35-year-old woman received cffDNA screening at 17th week of gestation. Amniocentesis was performed subsequently, and karyotyping, single-nucleotide polymorphism array (SNP-array) and BACs-on-Beads™ (BoBs™) were used to determine fetal chromosome content. Interphase fluorescence in situ hybridization (FISH) was applied to determine the copy number of chromosome 8.</p><p><strong>Results: </strong>An enhanced risk for fetal trisomy 8 was identified by cffDNA screening in the studied pregnant woman. After amniocentesis trisomy 8 was found in 1 of 73 metaphases. SNP-array on DNA derived from cultured amniocytes and neonatal cord blood cells suggested the presence of T8M. Interphase FISH on native neonatal cord blood cells confirmed T8M with a percentage of 10%. The Bobs™ fluorescence data also suggested that 8q23-8q24 was amplified.</p><p><strong>Conclusions: </strong>The current study shows that NIPT is suited to provide hints on rare autosomal trisomies, which have to be further validated and confirmed by other approaches.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":"39"},"PeriodicalIF":1.3,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9434846/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40338153","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 case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes.","authors":"Yan Luo,&nbsp;Hezhen Lu,&nbsp;Yanshang Zhang,&nbsp;Zhiqiang Cui,&nbsp;Pingping Zhang,&nbsp;Yali Li","doi":"10.1186/s13039-022-00615-z","DOIUrl":"https://doi.org/10.1186/s13039-022-00615-z","url":null,"abstract":"<p><p>Complex chromosomal rearrangements (CCR) are rare chromosomal structural abnormalities. The chromosomal structural variants in CCR carriers are one of the factors contributing to a history of adverse pregnancy and childbirth. In this study, we report a patient with a history of adverse pregnancy and childbirth who exhibited complex balanced chromosomal translocations. The female patient was phenotypically and intellectually normal; in her first pregnancy, the embryo was damaged, and a histological examination of the chromosomes of the embryos revealed a deletion of approximately 4.66 Mb at 1p32.3p32.2, a duplication of approximately 1.02 Mb at 1p22.2p22.1, a duplication of approximately 1.46 Mb at 6q27 and a deletion of approximately 7.78 Mb at 9p24.3p24.1. Chromosomal examinations of the patient revealed the karyotype to be 46,XX,(1;9)(p32; p34). In the second pregnancy, the foetus was diagnosed prenatally with three or more positive ultrasound soft indicators. The patient's karyotype was re-examined and further confirmed by fluorescence in situ hybridisation as 46,XX,t(1;9;6)(p31;p22;q27), revealing this patient was a carrier of complex balanced chromosomal translocations. Carriers of CCR have a higher risk of spontaneous abortion, and genetic counselling clinicians should consider the karyotype analyses of such patients in clinical practice and recheck their chromosomes if necessary.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":"37"},"PeriodicalIF":1.3,"publicationDate":"2022-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9394009/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40712199","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":"Svetlana G. Vorsanova (1945-2021).","authors":"Ivan Y Iourov","doi":"10.1186/s13039-022-00613-1","DOIUrl":"https://doi.org/10.1186/s13039-022-00613-1","url":null,"abstract":"","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":"35"},"PeriodicalIF":1.3,"publicationDate":"2022-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9390095/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40640159","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":"False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests?","authors":"Thomas Liehr","doi":"10.1186/s13039-022-00612-2","DOIUrl":"https://doi.org/10.1186/s13039-022-00612-2","url":null,"abstract":"<p><strong>Background: </strong>Non-invasive prenatal testing (NIPT) has had an incomparable triumph in prenatal diagnostics in the last decade. Over 1400 research articles have been published, predominantly praising the advantages of this test.</p><p><strong>Methods: </strong>The present study identified among the 1400 papers 24 original and one review paper, which were suited to re-evaluate the efficacy of > 750,000 published NIPT-results. Special attention was given to false-positive and false-negative result-rates. Those were discussed under different aspects-mainly from a patient-perspective.</p><p><strong>Results: </strong>A 27: 1 rate of false-positive compared to false-negative NIPT results was found. Besides, according to all reported, real-positive, chromosomally aberrant NIPT cases, 90% of those would have been aborted spontaneously before birth. These findings are here discussed under aspects like (i) How efficient is NIPT compared to first trimester screening? (ii) What are the differences in expectations towards NIPT from specialists and the public? and (iii) There should also be children born suffering from not by NIPT tested chromosomal aberrations; why are those never reported in all available NIPT studies?</p><p><strong>Conclusions: </strong>Even though much research has been published on NIPT, unbiased figures concerning NIPT and first trimester screening efficacy are yet not available. While false positive rates of different NIPT tests maybe halfway accurate, reported false-negative rates are most likely too low. The latter is as NIPT-cases with negative results for tested conditions are yet not in detail followed up for cases with other genetic or teratogenic caused disorders. This promotes an image in public, that NIPT is suited to replace all invasive tests, and also to solve the problem of inborn errors in humans, if not now then in near future. Overall, it is worth discussing the usefulness of NIPT in practical clinical application. Particularly, asking for unbiased figures concerning the efficacy of first trimester-screening compared to NIPT, and for really comprehensive data on false-positive and false-negative NIPT results.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":"36"},"PeriodicalIF":1.3,"publicationDate":"2022-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9392255/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40640152","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 an inherited unbalanced chromosome abnormalities in a Chinese family.","authors":"Ying Zhang,&nbsp;Juan Chen,&nbsp;Zonghui Feng,&nbsp;Wencheng Li","doi":"10.1186/s13039-022-00614-0","DOIUrl":"https://doi.org/10.1186/s13039-022-00614-0","url":null,"abstract":"<p><strong>Background: </strong>Unbalanced chromosome abnormalities (UBCA) are either gains or losses or large genomic regions, but the affected person is not or only minimally clinically affected. Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs and UBCA identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful variants from the norm.</p><p><strong>Case presentation: </strong>A 25-year-old, gravida 1, para 0, woman underwent amniocentesis at 18 weeks of gestation because the noninvasive prenatal testing (NIPT) results revealed a 6.8 Mb duplication from 2q11.1 to 2q11.2. Chromosomal microarray analysis (CMA) was performed on uncultured amniocytes. GTG-banding karyotype analysis on cultured amniocytes was performed.</p><p><strong>Results: </strong>Chromosomal GTG-banding of the cultured amniocytes revealed a karyotype of 46,XX. CMA detected a 6.8-Mb chromosomal duplication in the region of 2q11.1q11.2 (arr[GRCh37] 2q11.1q11.2(95,327,873_102,088,148)x3).</p><p><strong>Conclusion: </strong>Chromosomal microdeletions and microduplications are difficult to detect by conventional cytogenetics, combination of prenatal ultrasound, karyotype analysis, NIPT, CMA and genetic counseling is helpful for the prenatal diagnosis of UBCA and chromosomal microdeletions/microduplications.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":"34"},"PeriodicalIF":1.3,"publicationDate":"2022-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9380353/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40712265","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":"Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism.","authors":"Dong Li,&nbsp;Alanna Strong,&nbsp;Cuiping Hou,&nbsp;Helen Downes,&nbsp;Amanda Barone Pritchard,&nbsp;Pamela Mazzeo,&nbsp;Elaine H Zackai,&nbsp;Laura K Conlin,&nbsp;Hakon Hakonarson","doi":"10.1186/s13039-022-00610-4","DOIUrl":"https://doi.org/10.1186/s13039-022-00610-4","url":null,"abstract":"<p><p>Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These events can cause serious human disease by disrupting coding DNA and gene regulatory elements via deletions, duplications, and structural rearrangements. Here we describe a 5-year-old female with severe developmental delay, dysmorphic features, multi-suture craniosynostosis, and growth failure found to have a complex series of balanced intra- and inter-chromosomal rearrangements involving chromosomes 4, 11, 13, and X. Initial clinical studies were performed by karyotype, chromosomal microarray, and FISH with research-based short-read genome sequencing coupled with sanger sequencing to precisely map her breakpoints to the base pair resolution to understand the molecular basis of her phenotype. Genome analysis revealed two pathogenic deletions at 4p16.1-p15.32 and 4q31.1, accounting for her developmental delay and dysmorphism. We identified over 60 breakpoints, many with blunt ends and limited homology, supporting a role for non-homologous end joining in restructuring and resolution of the seminal chromoplexy event. We propose that the complexity of our patient's genomic rearrangements with a high number of breakpoints causes dysregulation of gene expression by three-dimensional chromatin interactions or topologically associating domains leading to growth failure and craniosynostosis. Our work supports an important role for genome sequencing in understanding the molecular basis of complex chromosomal rearrangements in human disease.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":"33"},"PeriodicalIF":1.3,"publicationDate":"2022-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354344/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40684713","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 and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y.","authors":"Yiqun He,&nbsp;Li Guo,&nbsp;Laiping Zheng,&nbsp;Congmian Ren,&nbsp;Ting Wang,&nbsp;Jian Lu","doi":"10.1186/s13039-022-00611-3","DOIUrl":"https://doi.org/10.1186/s13039-022-00611-3","url":null,"abstract":"<p><strong>Background: </strong>The mosaic forms and clinical phenotypes of fetuses with isochromosome Y are difficult to predict. Therefore, we summarized the cases of nine fetuses with isochromosome Y identified in prenatal diagnosis with a combination of molecular cytogenetic techniques, providing clinical evidence for prenatal genetic counseling.</p><p><strong>Methods: </strong>The prenatal diagnosis and pregnancy outcomes of nine fetuses with isochromosome Y were obtained by a  retrospective analysis. Isochromosome Y was identified prenatally by different approaches, such as conventional karyotyping, chromosomal microarray analysis (CMA), quantitative fluorescent polymerase chain reaction (QF-PCR) and fluorescence in situ hybridization (FISH).</p><p><strong>Results: </strong>Seven idic(Y) fetuses and two i(Y) fetuses were identified. One fetus was complete for i(Y)(p10), and the rest with 45,X had mosaic forms. A break and fusion locus was identified in Yp11.3 in one fetus, in Yq11.22 in six fetuses and in Yp10 in two fetuses. The CMA results suggested that different deletions and duplications were found on the Y chromosome. The deletion fragments ranged from 4.7 Mb to the entire Y chromosome, and the duplication fragments ranged from 10.4 to 18.0 Mb. QF-PCR analysis suggested that the AZF region was intact in one fetus, four fetuses had AZFb+c+d deletion, one fetus had AZFa+b+c+d deletion, and one fetus had AZFc+d deletion. Finally, four healthy male neonates were delivered successfully, but the parents of the remaining five fetuses, including three healthy and two unhealthy fetuses, chose to terminate their pregnancies.</p><p><strong>Conclusion: </strong>The fetus and neonate phenotype of prenatally detected isochromosome Y usually is that of a normally developed male, ascertained in the absence of other indicators of a fetal structural anomaly. Our study provides clinical reference materials for risk assessment and permits better prenatally counseling and preparation of parents facing the birth of isochromosome Y fetuses.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":"32"},"PeriodicalIF":1.3,"publicationDate":"2022-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9351221/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40694342","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 partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview.","authors":"Jianlong Zhuang,&nbsp;Chunnuan Chen,&nbsp;Hegan Zhang,&nbsp;Wanyu Fu,&nbsp;Yanqing Li,&nbsp;Yuying Jiang,&nbsp;Shuhong Zeng,&nbsp;Xiaoxia Wu,&nbsp;Yingjun Xie,&nbsp;Gaoxiong Wang","doi":"10.1186/s13039-022-00608-y","DOIUrl":"https://doi.org/10.1186/s13039-022-00608-y","url":null,"abstract":"<p><strong>Background: </strong>Partial trisomy 13q is a less common chromosomal abnormality with a great clinical variability, among them, isolated partial trisomy 13q is extremely rare. Here, we report two new unrelated cases of partial trisomy 13q in Chinese families aiming to emphasize the genotype-phenotype correlation in partial trisomy 13q.</p><p><strong>Methods: </strong>Enrolled in this study were two unrelated cases of partial 13q trisomy from two families in Quanzhou region South China. Karyotpe and single-nucleotide polymorphism (SNP) array analysis were employed to identify chromosome abnormalities and copy number variants in the families.</p><p><strong>Results: </strong>A 72.9-Mb duplication in 13q14.11q34 region was identified using SNP array analysis in Patient 1 with an intellectual disability, developmental delay, seizures, gastric perforation, and other congenital malformations from a family with paternal inv(13)(p12q14.1). SNP array detection in Patient 2 revealed a 92.4-Mb duplication in 13q12.11q34 region combined with an 8.4-Mb deletion in Xq27.3q28 region with intellectual disability, developmental delay, cleft palate, and duplication of the cervix and the vagina. No chromosomal abnormality was elicited from the parents of Patient 2.</p><p><strong>Conclusions: </strong>In this study, we presented two new unrelated cases of partial trisomy 13q with variable features in Chinese population, which may enrich the spectrum of the phenotypes partial trisomy 13q and further confirm the genotype-phenotype correlation.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":"31"},"PeriodicalIF":1.3,"publicationDate":"2022-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9336048/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40556073","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}