Cytogenetic and Genome Research最新文献

{"title":"Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome","authors":"B. P. Favilla, Bruna Burssed, É. M. Yamashiro Coelho, Ana Beatriz Alvarez Perez, Maria de Fátima de Faria Soares, V. A. Meloni, F. T. Bellucco, M. I. Melaragno","doi":"10.1159/000522034","DOIUrl":"https://doi.org/10.1159/000522034","url":null,"abstract":"Langer-Giedion syndrome (LGS) is caused by a contiguous deletion at 8q23q24, characterized by exostoses, facial, ectodermal, and skeletal anomalies, and, occasionally, intellectual disability. LGS patients have been diagnosed clinically or by routine cytogenetic techniques, hampering the definition of an accurate genotype-phenotype correlation for the syndrome. We report two unrelated patients with 8q23q24 deletions, characterized by cytogenomic techniques, with one of them, to our knowledge, carrying the smallest deletion reported in classic LGS cases. We assessed the pathogenicity of the deletion of genes within the 8q23q24 region and reviewed other molecularly confirmed cases from the literature. Our findings suggest a 3.2-Mb critical region for a typical presentation of the syndrome, emphasizing the contribution of the TRPS1, RAD21, and EXT1 genes’ haploinsufficiency, and facial dysmorphisms as well as bone anomalies as the most frequent features among patients with LGS. We also suggest a possible role for the CSMD3 gene, whose deletion seems to contribute to central nervous system anomalies. Since studies performing such correlation for LGS patients are limited, our data contribute to improving the genotype-phenotype characterization for LGS patients.","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2022-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41569845","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":"Identification of Centromere-Specific Repeats in the Zebra Finch Genome","authors":"Olga Takki, A. Komissarov, M. Kulak, S. Galkina","doi":"10.1159/000521716","DOIUrl":"https://doi.org/10.1159/000521716","url":null,"abstract":"Tandem repetitive sequences represent a significant part of many genomes but remain poorly characterized due to various methodological difficulties. Here, we describe the tandem repeat composition in the genome of zebra finch, Taeniopygia guttata, a species that has long served as an animal model, primarily in neurobiology and comparative genomics. Using available genome sequencing raw read datasets, we bioinformatically reconstructed consensus sequences of several tandem repeats and proved that the most abundant ones, Tgut191A and Tgut716A, are centromere-associated in chromosomes. Each centromeric region can have a different number of copies of each repeat, with Tgut716A enrichment in almost all microchromosomes and sex chromosomes. Sequences similar to Tgut191A and Tgut716A found in other Estrildidae and Viduidae species can be considered as candidate centromeric sequences, but this requires further cytogenetic verification.","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2022-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43217150","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":"Retraction Statement","authors":"","doi":"10.1159/000523671","DOIUrl":"https://doi.org/10.1159/000523671","url":null,"abstract":"","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47720033","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":"Front & Back Matter","authors":"Transf Ormati, C. Steinlein","doi":"10.1159/000522535","DOIUrl":"https://doi.org/10.1159/000522535","url":null,"abstract":"","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47184592","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":"Contents Col. 161, 2021","authors":"C. Steinlein","doi":"10.1159/000522349","DOIUrl":"https://doi.org/10.1159/000522349","url":null,"abstract":"Human cytogenetics and genomics Maki Fukami Department of Molecular Endocrinology, National Research Institute for Child Health and Development 2-10-1 Okura, Setagaya, Tokyo 157-8535, Japan Tel. +81-3-5494-7025; Fax +81-3-5494-7026 fukami-m@ncchd.go.jp Joris Vermeesch Laboratory of Cytogenetics and Genome Research UZ Leuven, K.U. Leuven Campus Gasthuisberg Herestraat 49 B-3000 Leuven, Belgium Tel. (+32) 16 34 5941 joris.vermeesch@uzleuven.be","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48690726","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":"Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China.","authors":"Yulin Zhou,&nbsp;Xingxiu Lu,&nbsp;Yanhong Zhang,&nbsp;Yunsheng Ge,&nbsp;Yasong Xu,&nbsp;Lili Wu,&nbsp;Yu Jiang","doi":"10.1159/000528600","DOIUrl":"https://doi.org/10.1159/000528600","url":null,"abstract":"<p><p>Fetal cystic hygroma (CH) is associated with poor prognosis and chromosomal anomalies. Recent studies have suggested that the genetic background of affected fetuses is essential for predicting pregnancy outcomes. However, the detection performance of different genetic approaches for the etiological diagnosis of fetal CH remains unclear. In this study, we aimed to compare the diagnostic efficiency of karyotyping and chromosomal microarray analysis (CMA) in a local fetal CH cohort, and tried to propose an optimized testing strategy that may help improve the cost-effectiveness of disease management. We reviewed all pregnancies that underwent invasive prenatal diagnosis between January 2017 and September 2021 at one of the largest prenatal diagnostic centers in Southeast China. We collected cases identified by the presence of fetal CH. Prenatal phenotypes and laboratory records of these patients were audited, collated, and analyzed. The detection rates of karyotyping and CMA were compared, and the concordance rate of these two methods was calculated. A total of 157 fetal CH cases were screened from 6,059 patients who underwent prenatal diagnosis. Diagnostic genetic variants were identified in 44.6% (70/157) of the cases. Karyotyping, CMA, and whole-exome sequencing (WES) identified pathogenic genetic variants in 63, 68, and 1 case, respectively. The Cohen's κ coefficient between karyotyping and CMA was 0.96, with a concordance of 98.0%. Of the 18 cases in which cryptic copy number variants <5 Mb were detected by CMA, 17 were interpreted as variants of uncertain significance, and the remaining cases were interpreted as pathogenic. Trio exome sequencing revealed a pathogenic homozygous splice site mutation in the PIGN gene in a case undiagnosed by CMA and karyotyping. Our study demonstrated that chromosomal aneuploidy abnormalities are the main genetic cause of fetal CH. Based on this, we recommend karyotyping combined with rapid aneuploidy detection as a first-tier approach for the genetic diagnosis of fetal CH. WES and CMA could improve the diagnostic yield when routine genetic tests fail to determine the cause of fetal CH.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9550252","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":"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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}