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Molecular Cytogenetics

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https://www.readbyqxmd.com/read/30008805/an-uncommon-t-9-11-p24-q22-with-monoallelic-loss-of-atm-and-kmt2a-genes-in-a-child-with-myelodysplastic-syndrome-acute-myeloid-leukemia-who-evolved-from-fanconi-anemia
#1
Viviane Lamim Lovatel, Daiane Corrêa de Souza, Tatiana Fonseca Alvarenga, Roberto R Capela de Matos, Claudia Diniz, Marcia Trindade Schramm, Juan Clinton Llerena Júnior, Maria Luiza Macedo Silva, Eliana Abdelhay, Teresa de Souza Fernandez
Background: Myelodysplastic syndrome (MDS) is rare in the pediatric age group and it may be associated with inheritable bone marrow failure (BMF) such as Fanconi anemia (FA). FA is a rare multi-system genetic disorder, characterized by congenital malformations and progressive BMF. Patients with FA usually present chromosomal aberrations when evolving to MDS or acute myeloid leukemia (AML). Thus, the cytogenetic studies in the bone marrow (BM) of these patients have an important role in the therapeutic decision, mainly in the indication for hematopoietic stem cell transplantation (HSCT)...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29991965/application-of-chromosomal-microarray-to-investigate-genetic-causes-of-isolated-fetal-growth-restriction
#2
Gang An, Yuan Lin, Liang Pu Xu, Hai Long Huang, Si Ping Liu, Yan Hong Yu, Fang Yang
Background: Application of chromosomal microarray analysis (CMA) to investigate the genetic characteristics of fetal growth restriction (FGR) without ultrasonic structural anomalies at 18-32 weeks. Methods: This study includes singleton fetuses with the estimated fetal weight (EFW) using the formula of Hadlock C below the 10th percentile for gestational age. FGRs without structural anomalies were selected, and the ones at high risk of noninvasive prenatal testing for trisomy 13, 18 and 21 would be excluded...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29977338/characterization-of-chromosome-composition-of-sugarcane-in-nobilization-by-using-genomic-in-situ-hybridization
#3
Fan Yu, Ping Wang, Xueting Li, Yongji Huang, Qinnan Wang, Ling Luo, Yanfen Jing, Xinlong Liu, Zuhu Deng, Jiayun Wu, Yongqing Yang, Rukai Chen, Muqing Zhang, Liangnian Xu
Background: Interspecific hybridization is an effective strategy for germplasm innovation in sugarcane. Nobilization refers to the breeding theory of development and utilization of wild germplasm. Saccharum spontaneum is the main donor of resistance and adaptive genes in the nobilization breeding process. Chromosome transfer in sugarcane is complicated; thus, research of different inheritance patterns can provide guidance for optimal sugarcane breeding. Results: Through chromosome counting and genomic in situ hybridization, we found that six clones with 80 chromosomes were typical S...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29951117/microduplication-in-the-2p16-1p15-chromosomal-region-linked-to-developmental-delay-and-intellectual-disability
#4
Luca Lovrecic, Chiara Gnan, Federica Baldan, Alessandra Franzoni, Sara Bertok, Giuseppe Damante, Bertrand Isidor, Borut Peterlin
Background: Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.1p15 chromosomal region has only been reported in one case, and milder clinical features were present compared to those attributed to 2p16.1p15 microdeletion syndrome. Some additional cases were deposited in DECIPHER database. Case presentation: In this report we describe four further cases of 2p16.1p15 microduplication in four unrelated probands...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29946362/erratum-publisher-correction-is-dna-methylation-the-new-guardian-of-the-genome
#5
Robert M Hoffman
[This corrects the article DOI: 10.1186/s13039-017-0314-8.].
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29946361/a-foetus-with-18p11-32-q21-2-duplication-and-xp22-33-p11-1-deletion-derived-from-a-maternal-reciprocal-translocation-t-x-18-q13-q21-3
#6
Jun-Kun Chen, Ping Liu, Li-Qin Hu, Qing Xie, Quan-Fei Huang, Hai-Liang Liu
Background: Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA) and has been widely applied, with highly accurate results for detecting foetal trisomies 21, 18 and 13. Recently, increasing attention has been paid to the clinical application of the non-invasive detection of foetal sub-chromosomal duplications and deletions beyond common aneuploidies. Case presentation: A 32-year-old healthy pregnant woman was referred to the Medical Genetic Centre of Ganzhou Maternal and Child Health Care Hospital...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29930709/cryptic-breakpoint-identified-by-whole-genome-mate-pair-sequencing-in-a-rare-paternally-inherited-complex-chromosomal-rearrangement
#7
Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M Mehrjouy, Niels Tommerup, Carolina Sismani
Background: Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring. Case presentation: We present a family, where the non-affected father and daughter were found, using FISH and karyotyping, to be carriers of a three-way complex chromosomal rearrangement [t(6;7;10)(q16.2;q34;q26.1), de novo in the father]. The family suffered from two stillbirths, one miscarriage, and has a son with severe intellectual disability...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29760782/an-improved-method-for-inducing-prometaphase-chromosomes-in-plants
#8
Agus Budi Setiawan, Chee How Teo, Shinji Kikuchi, Hidenori Sassa, Takato Koba
Background: Detailed karyotyping using metaphase chromosomes in melon ( Cucumis melo L.) remains a challenge because of their small chromosome sizes and poor stainability. Prometaphase chromosomes, which are two times longer and loosely condensed, provide a significantly better resolution for fluorescence in situ hybridization (FISH) than metaphase chromosomes. However, suitable method for acquiring prometaphase chromosomes in melon have been poorly investigated. Results: In this study, a modified Carnoy's solution II (MC II) [6:3:1 ( v /v) ethanol: acetic acid: chloroform] was used as a pretreatment solution to obtain prometaphase chromosomes...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29760781/understanding-aneuploidy-in-cancer-through-the-lens-of-system-inheritance-fuzzy-inheritance-and-emergence-of-new-genome-systems
#9
REVIEW
Christine J Ye, Sarah Regan, Guo Liu, Sarah Alemara, Henry H Heng
Background: In the past 15 years, impressive progress has been made to understand the molecular mechanism behind aneuploidy, largely due to the effort of using various -omics approaches to study model systems (e.g. yeast and mouse models) and patient samples, as well as the new realization that chromosome alteration-mediated genome instability plays the key role in cancer. As the molecular characterization of the causes and effects of aneuploidy progresses, the search for the general mechanism of how aneuploidy contributes to cancer becomes increasingly challenging: since aneuploidy can be linked to diverse molecular pathways (in regards to both cause and effect), the chances of it being cancerous is highly context-dependent, making it more difficult to study than individual molecular mechanisms...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29760780/derivative-chromosomes-involving-5p-large-rearranged-segments-went-unnoticed-with-the-use-of-conventional-cytogenetics
#10
Emiy Yokoyama, Victoria Del Castillo, Silvia Sánchez, Sandra Ramos, Bertha Molina, Leda Torres, María José Navarro, Silvia Avila, José Luis Castrillo, Benilde García-De Teresa, Bárbara Asch, Sara Frías
Background: In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400-500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and intellectual disability. Conventional karyotype analysis can rule out chromosomal alterations greater than 10 Mb. However, some large structural abnormalities, such as derivative chromosomes, may go undetected when the analysis is performed at less than a 550-band resolution and the size and banding pattern of the interchanged segments are similar...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29760779/a-boy-with-developmental-delay-and-mosaic-supernumerary-inv-dup-5-p15-33p15-1-leading-to-distal-5p-tetrasomy-case-report-and-review-of-the-literature
#11
Pavel Tesner, Jana Drabova, Miroslav Stolfa, Martin Kudr, Martin Kyncl, Veronika Moslerova, Drahuse Novotna, Radka Kremlikova Pourova, Eduard Kocarek, Tereza Rasplickova, Zdenek Sedlacek, Marketa Vlckova
Background: With only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs) or isochromosomes. The patients share common but unspecific symptoms such as developmental delay, seizures, ventriculomegaly, hypotonia, and fifth finger clinodactyly. Simple interstitial duplications leading to trisomies of parts of 5p are much more frequent and better described. Duplications encompassing 5p13.2 cause a defined syndrome with macrocephaly, distinct facial phenotype, heart defects, talipes equinovarus, feeding difficulties, respiratory distress and anomalies of the central nervous system, developmental delay and hypotonia...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29760778/loss-of-dmrt1-gene-in-a-mos-45-xy-9-8-46-xy-r-9-29-47-xy-idic-r-9-%C3%A3-2-1-46-xy-idic-r-9-1-46-xy-1-female-presenting-with-short-stature
#12
Bagas A Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R L Batubara, Alida R Harahap, Nanis S Marzuki
Background: A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. Case presentation: This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29743956/molecular-cytogenetic-identification-of-three-rust-resistant-wheat-thinopyrum-ponticum-partial-amphiploids
#13
Yanru Pei, Yu Cui, Yanping Zhang, Honggang Wang, Yinguang Bao, Xingfeng Li
Background: Thinopyrum ponticum (2n = 10× = 70, JS JS JS JS JJJJJJ) is an important wild perennial Triticeae species that has a unique gene pool with many desirable traits for common wheat. The partial amphiploids derived from wheat- Th. ponticum set up a bridge for transferring valuable genes from Th. ponticum into common wheat. Results: In this study, genomic in situ hybridization (GISH), multicolor GISH (mcGISH) and fluorescence in situ hybridization (FISH) were used to analyze the genomic constitution of SN0389, SN0398 and SN0406, three octoploid accessions with good resistance to rust...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29736186/compound-phenotype-in-a-girl-with-r-22-concomitant-microdeletion-22q13-32-q13-33-and-mosaic-monosomy-22
#14
Anna A Kashevarova, Elena O Belyaeva, Aleksandr M Nikonov, Olga V Plotnikova, Nikolay A Skryabin, Tatyana V Nikitina, Stanislav A Vasilyev, Yulia S Yakovleva, Nadezda P Babushkina, Ekaterina N Tolmacheva, Mariya E Lopatkina, Renata R Savchenko, Lyudmila P Nazarenko, Igor N Lebedev
Background: Ring chromosome instability may influence a patient's phenotype and challenge its interpretation. Results: Here, we report a 4-year-old girl with a compound phenotype. Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). aCGH identified a 180 kb 22q13.32 duplication, a de novo 2.024 Mb subtelomeric 22q13.32-q13.33 deletion, which is associated with Phelan-McDermid syndrome, and a maternal single gene 382-kb TUSC7 deletion of uncertain clinical significance located in the region of the 3q13...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29714353/correction-to-familial-intellectual-disability-as-a-result-of-a-derivative-chromosome-22-originating-from-a-balanced-translocation-3-22-in-a-four-generation-family
#15
Kaihui Zhang, Yan Huang, Rui Dong, Yali Yang, Ying Wang, Haiyan Zhang, Yufeng Zhang, Zhongtao Gai, Yi Liu
[This corrects the article DOI: 10.1186/s13039-017-0349-x.].
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29636822/maternal-interchromosomal-insertional-translocation-leading-to-1q43-q44-deletion-and-duplication-in-two-siblings
#16
Aixiang Luo, Dehua Cheng, Shimin Yuan, Haiyu Li, Juan Du, Yang Zhang, Chuanchun Yang, Ge Lin, Wenyong Zhang, Yue-Qiu Tan
Background: 1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation, and variable but characteristic facial features determined by the size of the segment and the number of genes involved. However, patients with 1q43-q44 duplication with a clinical phenotype comparable to that of 1q43-q44 deletion are rarely reported. Moreover, pure 1q43-q44 deletions and duplications derived from balanced insertional translocation within the same family with precisely identified breakpoints have not been reported...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29599822/novel-phenotype-of-5p13-3-q11-2-duplication-resulting-from-supernumerary-marker-chromosome-5-implications-for-management-and-genetic-counseling
#17
Margaret E Armstrong, David D Weaver, Melissa D Lah, Gail H Vance, Benjamin J Landis, Stephanie M Ware, Benjamin M Helm
Background: Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. The purpose of this study is to highlight the unique findings of a patient with a 5p13.3-q11.2 duplication arising from a SMC5 and compare and contrast the phenotype with cases in the literature. Case presentation: We report on an adult male with a 22 Mb duplication of chromosome 5p13...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29563973/down-syndrome-associated-childhood-myeloid-leukemia-with-yet-unreported-acquired-chromosomal-abnormalities-and-a-new-potential-adverse-marker-dup-1-q25q44
#18
Faten Moassass, Abdulsamad Wafa, Thomas Liehr, Ayman Al-Ablog, Walid Al Achkar
Background: Children with constitutional trisomy 21, i.e. Down syndrome (DS, OMIM #190685) have a 10 to 20-fold increased risk for a hematopoietic malignancy. They may suffer from acute lymphoblastic leukemia or acute myeloid leukemia (AML). AML referred to as myeloid leukemia of Down syndrome (ML-DS) is observed especially after birth at an early gestational age and characterized by enhanced white blood cell count, failure of spontaneous remission, liver fibrosis or liver dysfunction, and is significantly associated with early death...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29541161/3c-and-3c-based-techniques-the-powerful-tools-for-spatial-genome-organization-deciphering
#19
REVIEW
Jinlei Han, Zhiliang Zhang, Kai Wang
It is well known that the chromosomes are organized in the nucleus and this spatial arrangement of genome play a crucial role in gene regulation and genome stability. Different techniques have been developed and applied to uncover the intrinsic mechanism of genome architecture, especially the chromosome conformation capture (3C) and 3C-derived methods. 3C and 3C-derived techniques provide us approaches to perform high-throughput chromatin architecture assays at the genome scale. However, the advantage and disadvantage of current methodologies of C-technologies have not been discussed extensively...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29541160/parental-origin-of-deletions-and-duplications-about-the-necessity-to-check-for-cryptic-inversions
#20
Thomas Liehr, Isolde Schreyer, Alma Kuechler, Emmanouil Manolakos, Sylke Singer, Andreas Dufke, Kathleen Wilhelm, Tereza Jančušková, Radek Čmejla, Moneeb A K Othman, Ahmed H Al-Rikabi, Kristin Mrasek, Monika Ziegler, Stefanie Kankel, Katharina Kreskowski, Anja Weise
Background: Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential parental origin of a specific CNV either by molecular karyotyping or by two color fluorescence in situ hybridization (FISH), yet. In the latter case a critical region probe (CRP) is combined with a control probe for identification of the chromosome in question. However, CNVs can arise also due to other reasons, like a recombination-event based on a submicroscopic, cryptic inversion in one of the parents...
2018: Molecular Cytogenetics
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