Cytogenetic and Genome Research最新文献

{"title":"B-Cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Constitutional Ring Chromosome 21.","authors":"Vandana Baloda,&nbsp;Nidhi Aggarwal,&nbsp;Flavia G Rosado,&nbsp;Sarah Mackey,&nbsp;James Felker,&nbsp;Svetlana A Yatsenko","doi":"10.1159/000527025","DOIUrl":"https://doi.org/10.1159/000527025","url":null,"abstract":"<p><p>Pediatric B-cell acute lymphoblastic leukemia (B-ALL) is associated with various specific cytogenetic and molecular markers that significantly influence treatment and prognosis. Intrachromosomal amplification of chromosome 21 (iAMP21) defines a rare distinct cytogenetic subgroup of childhood B-ALL, which is characterized by amplification of region 21q22.12 comprising the RUNX1 gene. Constitutional structural chromosomal abnormalities involving chromosome 21 confer an increased risk for B-ALL with iAMP21. Here, we report the development of B-ALL with iAMP21 in a 9-year-old child with a constitutional ring chromosome 21, r(21)c, uncovered after B-ALL diagnosis. Cytogenetic and microarray analysis of the post-therapy sample revealed an abnormal chromosome 21 lacking a satellite and having a deletion of the terminal 22q22.3 region, consistent with a constitutional ring chromosome 21, r(21)(p11.2q22). On a retrospective analysis, this ring chromosome was observed in the normal cells in the pre-treatment diagnostic specimen. Constitutional ring chromosome 21 may remain undetected in patients with mild or no neurodevelopmental phenotype, posing an unknown lifelong risk of developing B-ALL with iAMP21. Individuals with constitutional structural chromosome 21 rearrangements such as ring 21 require a close surveillance and long-term follow-up studies to establish their risk of B-ALL relapse and possibility of developing other malignancies. Germline analysis is recommended to all pediatric patients with iAMP21-related B-ALL to rule out structural chromosome 21 rearrangements and to elucidate molecular mechanisms of iAMP21 formation.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":"162 5","pages":"231-236"},"PeriodicalIF":1.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10773139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication.","authors":"Sidrah A Badar,&nbsp;Amy M Breman,&nbsp;Celanie K Christensen,&nbsp;Brett H Graham,&nbsp;Meredith R Golomb","doi":"10.1159/000521297","DOIUrl":"https://doi.org/10.1159/000521297","url":null,"abstract":"<p><p>The 16p11.2 duplication is a well-known cause of developmental delay and autism, but there are only 2 previously reported cases of 16p11.2 triplication. Both of the previously reported cases exhibited tandem triplication on a 16p11.2 duplication inherited from 1 parent. We report fraternal twins presenting with developmental delay and 16p11.2 triplication resulting from inheritance of a 16p11.2 duplicated homolog from each parent. This report also reviews the overlapping features in previously published cases of 16p11.2 triplication, and possible implications are discussed.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":"162 1-2","pages":"40-45"},"PeriodicalIF":1.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39904042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytogenetic Analysis of the Fungus-Farming Ant Cyphomyrmex rimosus (Spinola, 1851) (Formicidae: Myrmicinae: Attini) Highlights Karyotypic Variation.","authors":"Gisele Amaro Teixeira,&nbsp;Gabriela de Figueiredo Jacintho,&nbsp;Hilton Jeferson Alves Cardoso de Aguiar,&nbsp;Denilce Meneses Lopes,&nbsp;Luísa Antônia Campos Barros","doi":"10.1159/000529607","DOIUrl":"https://doi.org/10.1159/000529607","url":null,"abstract":"<p><p>The fungus-farming ant genus Cyphomyrmex (subtribe Attina, clade Neoattina) comprises 23 described species that are widely distributed throughout the Neotropics. Species within Cyphomyrmex have taxonomic issues such as Cyphomyrmex rimosus (Spinola, 1851) which is likely a species complex. Cytogenetics is a useful tool for evolutionary studies and understanding species with dubious taxonomy. In this study, we characterized the karyotype of C. rimosus from Viçosa, Minas Gerais State, southeastern Brazil using classical and molecular cytogenetic techniques to enrich the chromosomal information about Cyphomyrmex. The karyotype of C. rimosus from the rainforest of southeastern Brazil (2n = 22, 18m + 4sm) notably contrasts with that previously described for this species in Panama (2n = 32). This intraspecific chromosomal variation suggests the existence of a species complex within this taxon according to the previous hypothesis derived from morphological analysis. We detected GC-rich heterochromatic regions in C. rimosus and, using repetitive DNA probes, showed that this heterochromatin shares repetitive sequences with other Neoattina species already studied, enhancing the importance of this specific genome region in the understanding of Attina evolution. Mapping of microsatellite (GA)15 on C. rimosus was restricted to the euchromatic regions of all chromosomes. The single intrachromosomal rDNA sites observed in C. rimosus follow the general genomic organization trend of ribosomal genes in Formicidae. Our study extends the data of chromosome mapping on Cyphomyrmex and reinforces the importance of cytogenetic studies in different localities to better understand taxonomic issues in widely distributed taxa such as C. rimosus.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":"162 10","pages":"579-586"},"PeriodicalIF":1.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10088682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fourth Report on Chicken Genes and Chromosomes 2022.","authors":"Jacqueline Smith,&nbsp;James M Alfieri,&nbsp;Nick Anthony,&nbsp;Peter Arensburger,&nbsp;Giridhar N Athrey,&nbsp;Jennifer Balacco,&nbsp;Adam Balic,&nbsp;Philippe Bardou,&nbsp;Paul Barela,&nbsp;Yves Bigot,&nbsp;Heath Blackmon,&nbsp;Pavel M Borodin,&nbsp;Rachel Carroll,&nbsp;Meya C Casono,&nbsp;Mathieu Charles,&nbsp;Hans Cheng,&nbsp;Maddie Chiodi,&nbsp;Lacey Cigan,&nbsp;Lyndon M Coghill,&nbsp;Richard Crooijmans,&nbsp;Neelabja Das,&nbsp;Sean Davey,&nbsp;Asya Davidian,&nbsp;Fabien Degalez,&nbsp;Jack M Dekkers,&nbsp;Martijn Derks,&nbsp;Abigail B Diack,&nbsp;Appolinaire Djikeng,&nbsp;Yvonne Drechsler,&nbsp;Alexander Dyomin,&nbsp;Olivier Fedrigo,&nbsp;Steven R Fiddaman,&nbsp;Giulio Formenti,&nbsp;Laurent A F Frantz,&nbsp;Janet E Fulton,&nbsp;Elena Gaginskaya,&nbsp;Svetlana Galkina,&nbsp;Rodrigo A Gallardo,&nbsp;Johannes Geibel,&nbsp;Almas Gheyas,&nbsp;Cyrill John P Godinez,&nbsp;Ashton Goodell,&nbsp;Jennifer A M Graves,&nbsp;Daren K Griffin,&nbsp;Bettina Haase,&nbsp;Jian-Lin Han,&nbsp;Olivier Hanotte,&nbsp;Lindsay J Henderson,&nbsp;Zhuo-Cheng Hou,&nbsp;Kerstin Howe,&nbsp;Lan Huynh,&nbsp;Evans Ilatsia,&nbsp;Erich Jarvis,&nbsp;Sarah M Johnson,&nbsp;Jim Kaufman,&nbsp;Terra Kelly,&nbsp;Steve Kemp,&nbsp;Colin Kern,&nbsp;Jacob H Keroack,&nbsp;Christophe Klopp,&nbsp;Sandrine Lagarrigue,&nbsp;Susan J Lamont,&nbsp;Margaret Lange,&nbsp;Anika Lanke,&nbsp;Denis M Larkin,&nbsp;Greger Larson,&nbsp;John King N Layos,&nbsp;Ophélie Lebrasseur,&nbsp;Lyubov P Malinovskaya,&nbsp;Rebecca J Martin,&nbsp;Maria Luisa Martin Cerezo,&nbsp;Andrew S Mason,&nbsp;Fiona M McCarthy,&nbsp;Michael J McGrew,&nbsp;Jacquelyn Mountcastle,&nbsp;Christine Kamidi Muhonja,&nbsp;William Muir,&nbsp;Kévin Muret,&nbsp;Terence Murphy,&nbsp;Ismael Ng'ang'a,&nbsp;Masahide Nishibori,&nbsp;Rebecca E O'Connor,&nbsp;Moses Ogugo,&nbsp;Ron Okimoto,&nbsp;Ochieng Ouko,&nbsp;Hardip R Patel,&nbsp;Francesco Perini,&nbsp;María Ines Pigozzi,&nbsp;Krista C Potter,&nbsp;Peter D Price,&nbsp;Christian Reimer,&nbsp;Edward S Rice,&nbsp;Nicolas Rocos,&nbsp;Thea F Rogers,&nbsp;Perot Saelao,&nbsp;Jens Schauer,&nbsp;Robert Schnabel,&nbsp;Valerie Schneider,&nbsp;Henner Simianer,&nbsp;Adrian Smith,&nbsp;Mark P Stevens,&nbsp;Kyle Stiers,&nbsp;Christian Keambou Tiambo,&nbsp;Michele Tixier-Boichard,&nbsp;Anna A Torgasheva,&nbsp;Alan Tracey,&nbsp;Clive A Tregaskes,&nbsp;Lonneke Vervelde,&nbsp;Ying Wang,&nbsp;Wesley C Warren,&nbsp;Paul D Waters,&nbsp;David Webb,&nbsp;Steffen Weigend,&nbsp;Anna Wolc,&nbsp;Alison E Wright,&nbsp;Dominic Wright,&nbsp;Zhou Wu,&nbsp;Masahito Yamagata,&nbsp;Chentao Yang,&nbsp;Zhong-Tao Yin,&nbsp;Michelle C Young,&nbsp;Guojie Zhang,&nbsp;Bingru Zhao,&nbsp;Huaijun Zhou","doi":"10.1159/000529376","DOIUrl":"10.1159/000529376","url":null,"abstract":"none.","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":"162 8-9","pages":"405-528"},"PeriodicalIF":1.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10217896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tracking Chromosomal Origins in the Northern Italy System of Metacentric Races of the House Mouse.","authors":"Mabel D Giménez,&nbsp;Jonathan J Hughes,&nbsp;Moira Scascitelli,&nbsp;Sofia I Gabriel,&nbsp;Daniel W Förster,&nbsp;Thadsin Panithanarak,&nbsp;Heidi C Hauffe,&nbsp;Jeremy B Searle","doi":"10.1159/000527106","DOIUrl":"https://doi.org/10.1159/000527106","url":null,"abstract":"<p><p>The Western European house mouse is chromosomally diverse, with diploid karyotypes ranging from the standard 40 telocentric chromosomes down to 22 chromosomes. Karyotypes are modified through Robertsonian (Rb) fusion of 2 telocentrics into a single metacentric, occurring repeatedly with fixation, and whole-arm reciprocal translocations (WARTs) generating additional novel karyotypes. Over 100 metacentric populations (chromosomal races) have been identified, geographically clustered into \"systems.\" Chromosomal races within systems often hybridise, and new races may emerge through this hybridisation (\"zonal raciation\"). We wished to determine the degree to which chromosomal races in a system have evolved independently or share common ancestry. Recombination between chromosomes from hybridising chromosomal races can erase the signals associated with a particular metacentric of interest, making inferences challenging. However, reduced recombination near the centromeres of chromosomal race-specific metacentrics makes centromere-adjacent markers ideal for solving this problem. For the Northern Italy System (NIS), we used microsatellite markers near the centromere to test previous hypotheses about evolutionary relationships of 5 chromosomal races. We chose markers from chromosomes 1, 3, 4, and 6, all of which comprise one arm of a metacentric in at least 2 of these NIS metacentric populations. We used estimates of FST and RST, as well as principal components analyses and neighbour-joining phylogenetic analyses, to infer evolutionary relationships between these 5 chromosomal races and neighbouring mice with the standard karyotype. We showed that the metacentric populations form a single grouping distinct from the standard populations, consistent with their common origin and consistent with a parsimonious sequence of chromosomal rearrangements to explain the relationship of the chromosomal races. That origin and evolution of the chromosomal races in the system would have involved Rb fusions, explaining the occurrence of chromosomal races with diploid numbers as low as 22. However, WARTs and zonal raciation have also been inferred, and the rare occurrence of chromosome 1 in different metacentrics in closely related chromosomal races is almost certainly explained by a WART. Our results with centromeric microsatellites are consistent with the above scenarios, illustrating, once again, the value of markers in the centromeric region to test evolutionary hypotheses in house mouse chromosomal systems.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":"162 4","pages":"214-230"},"PeriodicalIF":1.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10413737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Neo-X Does Not Form a Barr Body but Shows a Slightly Condensed Structure in the Okinawa Spiny Rat (Tokudaia muenninki).","authors":"Ryoma Kudo, Ikuya Yoshida, Luisa Matiz Ceron, Shusei Mizushima, Yoko Kuroki, Takamichi Jogahara, Asato Kuroiwa","doi":"10.1159/000531275","DOIUrl":"10.1159/000531275","url":null,"abstract":"<p><p>X chromosome inactivation (XCI) is an essential mechanism for gene dosage compensation between male and female cells in mammals. The Okinawa spiny rat (Tokudaia muenninki) is a native rodent in Japan with XX/XY sex chromosomes, like most mammals; however, the X chromosome has acquired a neo-X region (Xp) by fusion with an autosome. We previously reported that dosage compensation has not yet evolved in the neo-X region; however, X-inactive-specific transcript (Xist) RNA (long non-coding RNA required for the initiation of XCI) is partially localized in the region. Here, we show that the neo-X region represents an early chromosomal state in the acquisition of XCI by analyses of heterochromatin and Barr body formation. We found no evidence for heterochromatin formation in the neo-X region by R-banding by acridine orange (RBA) assays and immunostaining of H3K27me3. Double-immunostaining of H3K27me3 and HP1, a component of the Barr body, revealed that the entire ancestral X chromosome region (Xq) showed a bipartite folded structure. By contrast, HP1 was not localized to the neo-X region. However, BAC-FISH revealed that the signals of genes on the neo-X region of the inactive X chromosome were concentrated in a narrow region. These findings indicated that although the neo-X region of the inactive X chromosome does not form a complete Barr body structure (e.g., it lacks HP1), it forms a slightly condensed structure. These findings combined with the previously reported partial binding of Xist RNA suggest that the neo-X region exhibits incomplete inactivation. This may represent an early chromosomal state in the acquisition of the XCI mechanism.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"632-643"},"PeriodicalIF":1.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9565367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Shugoshin Regulates Cohesin, Kinetochore-Microtubule Attachments, and Chromosomal Instability.","authors":"Qiqi Sun, Feng Liu, Xiaolong Mo, Bo Yao, Guanghai Liu, Shanshan Chen, Yanping Ren","doi":"10.1159/000528141","DOIUrl":"10.1159/000528141","url":null,"abstract":"<p><p>Correct regulation of cohesin at chromosome arms and centromeres and accurate kinetochore-microtubule connections are significant for proper chromosome segregation. At anaphase of meiosis I, cohesin at chromosome arms is cleaved by separase, leading to the separation of homologous chromosomes. However, at anaphase of meiosis II, cohesin at centromeres is cleaved by separase, leading to the separation of sister chromatids. Shugoshin-2 (SGO2) is a member of the shugoshin/MEI-S332 protein family in mammalian cells, a crucial protein that protects centromeric cohesin from cleavage by separase and corrects wrong kinetochore-microtubule connections before anaphase of meiosis I. Shugoshin-1 (SGO1) plays a similar role in mitosis. Moreover, shugoshin can inhibit the occurrence of chromosomal instability (CIN), and its abnormal expression in several tumors, such as triple-negative breast cancer, hepatocellular carcinoma, lung cancer, colon cancer, glioma, and acute myeloid leukemia, can be used as biomarker for disease progression and potential therapeutic targets for cancers. Thus, this review discusses the specific mechanisms of shugoshin which regulates cohesin, kinetochore-microtubule connections, and CIN.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":"162 6","pages":"283-296"},"PeriodicalIF":1.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9300683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genotype-Phenotype Correlation of Distal 2q37 Deletions.","authors":"Aiko Iwata-Otsubo,&nbsp;Kahlen R Darr,&nbsp;Wilfredo Torres-Martinez,&nbsp;Jennelle C Hodge","doi":"10.1159/000526660","DOIUrl":"https://doi.org/10.1159/000526660","url":null,"abstract":"<p><p>Brachydactyly mental retardation syndrome (BDMR) typically results from large deletions (>2-9 Mb) in distal 2q37. Haploinsufficiency of HDAC4 with incomplete penetrance has been proposed as the primary genetic cause of BDMR. To date, pure 2q37 deletions distal to HDAC4 were reported only in a limited number of individuals who share a subset of the clinical manifestations seen in cases with 2q37 deletions encompassing HDAC4. Here, we present a 4-year-old African American male who carries the smallest established 2q37.3 deletion distal to HDAC4 (827.1 kb; 16 OMIM genes). His clinical features that overlap with BDMR phenotypes include expressive-receptive language delay, behavioral issues, mild facial dysmorphism such as frontal bossing, and bilateral 5th finger brachydactyly and clinodactyly. The deletion was inherited from his mother with a history of learning difficulties and similar facial dysmorphism. This case provides important genotype-phenotype correlation information and suggests a 2q37 region distal to HDAC4 encompassing the HDLBP gene may contribute to a subset of clinical features overlapping with those seen in individuals with BDMR.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":"162 5","pages":"237-243"},"PeriodicalIF":1.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10776329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The New Mitogenome of Erpornis zantholeuca (Aves: Passeriformes): Sequence, Structure, and Phylogenetic Analyses.","authors":"Qingmiao Yuan,&nbsp;Jianbin Sha,&nbsp;Yubao Duan","doi":"10.1159/000526099","DOIUrl":"https://doi.org/10.1159/000526099","url":null,"abstract":"<p><p>White-bellied Erpornis (Erpornis zantholeuca) is a group of birds in the order Passeriformes, but its taxonomic status remains controversial. To understand the phylogenetic position of E. zantholeuca and phylogenetic relations within this family, we sequenced the complete mitochondrial genome of E. zantholeuca, which was 16,902 bp in length, containing 13 protein-coding genes (PCGs), 22 transfer RNA (tRNA) genes, 2 ribosomal RNA (rRNA) genes, and a control region. The nucleotide composition of the whole genome was 30.10% A, 30.48% C, 15.14% G, and 24.28% T and showed an elevated AT content (54.38%). All genes were encoded on the H-strand, with the exceptions of 8 tRNAs (trnQ, trnA, trnN, trnC, trnY, trnS2(UCN), trnP, trnE) and 1 PCG (Mt-ND6). Most PCGs used standard ATN as start codons, and TAN as stop codons. All tRNAs were predicted to form the typical cloverleaf secondary structures. The gene order of E. zantholeuca was consistent with that of Gallus gallus, which was considered to be a plesiomorphic or typical avian gene order. Phylogenetic relationships based on bayesian inference and maximum likelihood methods showed that E. zantholeuca was well supported as the sister group of (Vireo altiloquus + Vireo olivaceus). In addition, Pteruthius melanotis was sister to the other members of Vireonidae.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":"162 5","pages":"250-261"},"PeriodicalIF":1.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10781427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Frequency of Sex Chromosome Involvement in a Large Cohort of Subjects with Two Copy Number Variants.","authors":"Autumn Vara, Janice L Smith, S Shahrukh Hashmi, Victoria F Wagner, Kathryn Gunther, David F Rodriguez-Buritica","doi":"10.1159/000531096","DOIUrl":"10.1159/000531096","url":null,"abstract":"<p><p>Copy number variants (CNVs) are a common finding in the clinical setting and contribute to both genetic variation and disease. Studies have described the accumulation of multiple CNVs as a disease-modifying mechanism. While it has been described how additional CNVs may play a role in phenotype, in which ways and to what extent sex chromosomes are involved in dual CNV scenario has not been fully defined. To describe the distribution of CNVs, a secondary data analysis using the DECIPHER database on 2,273 de-identified individuals with two CNVs was performed. CNVs were designated larger and secondary based on size and characteristics. We found that the X chromosome was observed to be the most common chromosome involved in secondary CNVs. Further analysis showed CNVs on the sex chromosome have significant differences compared to autosomes when comparing median size (p = 0.013), pathogenicity groups (p &lt; 0.001), and variant classification (p = 0.001). Lastly, we identified chromosome combinations for larger and secondary CNVs and observed the plurality of secondary CNVs fell in the same chromosome as the larger. The observations of this study provide additional information on sex chromosome CNV involvement in a variety of indications.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"599-608"},"PeriodicalIF":1.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9893282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}