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Cytogenetic and Genome Research

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https://www.readbyqxmd.com/read/29656294/gray-matter-heterotopia-mental-retardation-developmental-delay-microcephaly-and-facial-dysmorphisms-in-a-boy-with-ring-chromosome-6-a-10-year-follow-up-and-literature-review
#1
Shu Liu, Zhiqing Wang, Sisi Wei, Jinqun Liang, Nuan Chen, Haimei OuYang, Weihong Zeng, Liying Chen, Xunjie Xie, Jianhui Jiang
Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2...
April 14, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29656286/classification-of-uniparental-isodisomy-patterns-that-cause-autosomal-recessive-disorders-proposed-mechanisms-of-different-proportions-and-parental-origin-in-each-pattern
#2
Yo Niida, Mamoru Ozaki, Masaki Shimizu, Kazuyuki Ueno, Tomomi Tanaka
Patients with autosomal recessive (AR) disorders are usually born to parents both of whom are heterozygous carriers of the disease. However, in some instances only one of the parents is a carrier and a mutation is segregated to the patient through uniparental isodisomy (UPiD). Recently, an increasing number of such case reports has been published, and it has become clear that there are several different UPiD patterns that cause AR disorders. In this article, we report 3 remarkable patients with different patterns of UPiD...
April 14, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29656282/intrapopulation-chromosomal-polymorphism-in-mazama-gouazoubira-cetartiodactyla-cervidae-the-emergence-of-a-new-species
#3
Mirela P Valeri, Iara M Tomazella, José M B Duarte
Mazama gouazoubira is a small deer species widely distributed in South America. Previous studies have shown that this species presents intraspecific chromosomal polymorphisms, which could affect fertility due to the effects of chromosomal rearrangements on gamete formation. Important aspects regarding the karyotype evolution of this species and the genus remain undefined due to the lack of information concerning the causes of this chromosomal variation. Nineteen individuals belonging to the Mazama gouazoubira population located in the Pantanal were cytogenetically evaluated...
April 14, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29635249/alterations-in-heterochromatic-knobs-in-maize-callus-culture-by-breakage-fusion-bridge-cycle-and-unequal-crossing-over
#4
Janay A Santos-Serejo, José R Gardingo, Mateus Mondin, Margarida L R Aguiar-Perecin
The meiotic and mitotic behavior of regenerated plants derived from a long-term callus culture, designated 12-F, was analyzed. This culture was heterozygous for an amplification of the heterochromatic knob on the long arm of chromosome 7 (K7L). We aimed to investigate if the amplification resulted from a breakage-fusion-bridge (BFB) cycle or from unequal sister chromatid recombination. Therefore, C-banded mitotic metaphases and pachytene, diakinesis, and anaphase I of regenerated plants were analyzed. Additionally, the occurrence of alterations in K7L was investigated in C-banded metaphases from short-term callus cultures derived from lines related to the donor genotype of the 12-F culture...
April 11, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29635248/chromosomal-mapping-of-repeat-dna-in-bergiaria-westermanni-pimelodidae-siluriformes-localization-of-45s-rdna-in-b-chromosomes
#5
Geovana C Malimpensa, Josiane B Traldi, Danyelle Toyama, Flávio Henrique-Silva, Marcelo R Vicari, Orlando Moreira-Filho
The occurrence of repetitive DNA in autosomes and B chromosomes of Bergiaria westermanni was examined using conventional and molecular cytogenetic techniques. This species exhibited 2n = 56 chromosomes, with intra- and interindividual variation in the number of heterochromatic B chromosomes (from 0 to 4). The 5S rDNA was localized in pairs 1 and 5, and histone probes (H1, H3, and H4) and U2 small nuclear RNA were syntenic with 5S rDNA in pair 5. Histone sequences were also located in chromosome pair 14. The (GATA)n sequence was dispersed throughout the autosomes and B chromosomes, with clusters (microsatellite accumulation) in some chromosome regions...
April 11, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29627832/somatically-acquired-isodicentric-y-and-mosaic-loss-of-chromosome-y-in-a-boy-with-hypospadias
#6
Mami Miyado, Koji Muroya, Momori Katsumi, Kazuki Saito, Masafumi Kon, Maki Fukami
Isodicentric Y chromosome [idic(Y)] represents a relatively common subtype of Y chromosomal rearrangements in the germline; however, limited evidence supports the postzygotic occurrence of idic(Y). Here, we report a boy with hypospadias and somatically acquired idic(Y). The 3.5-year-old boy has been identified in our previous study for patients with hypospadias. In the present study, cytogenetic analysis including FISH revealed a 45,X[5]/46,X,idic(Y)[7]/46,XY[8] karyotype. MLPA showed a mosaic deletion involving PPP1R12BP1 and RBMY2DP...
April 7, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29587287/cohesin-rad21-gene-promoter-methylation-in-patients-with-chronic-lymphocytic-leukemia
#7
Agapi Ioannidou, Sophia Zachaki, Maria Karakosta, Aggeliki Daraki, Paraskevi Roussou, Kalliopi N Manola
Chronic lymphocytic leukemia (CLL) is the most common type of leukemia in adults and is characterized by the presence of specific cytogenetic abnormalities. CLL research has been focused on epigenetic processes like gene promoter methylation of CpG islands. In the present study, the methylation status of the RAD21 gene is studied and associated with cytogenetic findings in CLL patients in order to investigate its possible implication in CLL pathogenesis and the formation of CLL chromosomal abnormalities.
March 24, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29587286/chromosome-banding-in-amphibia-xxxvii-y-autosome-translocations-in-anura
#8
Michael Schmid, Claus Steinlein
A detailed cytogenetic study on anurans belonging to the unranked taxon Terraranae revealed the existence of microscopically recognizable XY♂/XX♀ or ZZ♂/ZW♀ sex chromosomes in 11 species. Furthermore, in some species Y-autosome translocations were found, of which 5 could be confirmed. The male individuals carrying the Y-autosome translocations still coexist with the males showing the original karyotypes. The present report gives an overview on the mitotic and meiotic structure, staining and banding properties, functional importance, and similarities and differences of these Y-autosome translocations which are very rare in vertebrates...
March 22, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29587261/high-frequency-of-copy-neutral-loss-of-heterozygosity-in-patients-with-myelofibrosis
#9
Milton Rego de Paula Junior, Alexandre Nonino, Juliana Minuncio Nascimento, Raphael S Bonadio, Aline Pic-Taylor, Silviene F de Oliveira, Rinaldo Wellerson Pereira, Cintia do Couto Mascarenhas, Juliana Forte Mazzeu
Myelofibrosis is the rarest and most severe type of Philadelphia-negative classical myeloproliferative neoplasms. Although mutually exclusive driver mutations in JAK2, MPL, or CALR that activate JAK-STAT pathway have been related to the pathogenesis of the disease, chromosome abnormalities have also been associated with the phenotype and prognosis of the disease. Here, we report the use of a chromosomal microarray platform consisting of both oligo and SNP probes to improve the detection of chromosome abnormalities in patients with myelofibrosis...
March 22, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29550828/a-paediatric-acute-promyelocytic-leukaemia-patient-harbouring-a-cryptic-pml-rara-insertion-due-to-a-complex-structural-chromosome-17-rearrangement
#10
Racha El-Hajj Ghaoui, Luke St Heaps, Dorothy Hung, Sumanth Nagabushan, Catherine Harris, Oksana Mirochnik, Praveen Sharma, Stewart J Kellie, Dale C Wright
Acute promyelocytic leukaemia with PML-RARA fusion is usually associated with the t(15;17)(q24.1;q21.1) translocation but may also arise from complex or cryptic rearrangements. The fusion usually resides on chromosome 15 but occasionally on others. We describe a cryptic PML-RARA fusion within a novel chromosome 17 rearrangement. We performed interphase fluorescence in situ hybridisation (FISH) using a dual-fusion PML-RARA probe, followed by reverse transcriptase-polymerase chain reaction (RT-PCR) for PML-RARA, karyotyping, and metaphase FISH using RARA break-apart, locus-specific, and subtelomere probes for chromosome 17...
March 17, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29544223/chromosome-banding-in-amphibia-xxxvi-multimorphic-sex-chromosomes-and-an-enigmatic-sex-determination-in-eleutherodactylus-johnstonei-anura-eleutherodactylidae
#11
Michael Schmid, Claus Steinlein
A detailed cytogenetic study on the leaf litter frog Eleutherodactylus johnstonei from 14 different Caribbean islands and the mainlands of Venezuela and Guyana revealed the existence of multimorphic XY♂/XX♀ sex chromosomes 14. Their male sex determination and development depends either on the presence of 2 telocentric chromosomes 14 (XtYt), or on 1 submetacentric chromosome 14 (Xsm) plus 1 telocentric chromosome 14 (Yt), or on the presence of 2 submetacentric chromosomes 14 (XsmYsm). The female sex determination and development requires either the presence of 2 telocentric chromosomes 14 (XtXt) or 2 submetacentric chromosomes 14 (XsmXsm)...
March 16, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29544220/genotype-phenotype-analysis-neuropsychological-assessment-and-growth-hormone-response-in-a-patient-with-18p-deletion-syndrome
#12
Huihui Sun, Naijun Wan, Xinli Wang, Liang Chang, Dazhi Cheng
18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions...
March 16, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29544219/b-chromosome-diversity-and-repetitive-sequence-distribution-in-an-isolated-population-of-akodon-montensis-rodentia-sigmodontinae
#13
Amanda A Soares, Jonathan P Castro, Pedro Balieiro, Sidnei Dornelles, Tiago M Degrandi, Ives J Sbalqueiro, Roberto Ferreira Artoni, Iris Hass
B chromosomes are supernumerary chromosomes found in the karyotypes of approximately 15% of all eukaryotic species. They present parasitic behavior and do not follow the standard Mendelian pattern of inheritance, resulting in an imbalance in gametogenesis. The evolutionary dynamics of B chromosomes is still unknown for many species, but studies indicate that the accumulation of repetitive sequences plays an important role in the differentiation of these elements. We analyzed morphology, frequency, and possible homologies amongst different B chromosomes found in an isolated Akodon montensis population in southern Brazil...
March 16, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29544218/a-novel-ptch1-frameshift-mutation-leading-to-nevoid-basal-cell-carcinoma-syndrome
#14
Ceren D Durmaz, Gareth Evans, Miriam J Smith, Pelin Ertop, Bengü N Akay, Timur Tuncalı
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst...
March 16, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29525789/a-novel-porcn-frameshift-mutation-leading-to-focal-dermal-hypoplasia-a-case-report
#15
Ceren D Durmaz, John McGrath, Lu Liu, Halil G Karabulut
Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females. Here, we report a female patient with cutaneous changes, multiple eye anomalies, short stature, and ectrodactyly of the right foot...
March 10, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29518772/two-cases-with-ring-chromosome-13-at-either-end-of-the-phenotypic-spectrum
#16
Seda Çakmaklı, Tufan Çankaya, Semra Gürsoy, Altuğ Koç, Özgür Kırbıyık, Özge A Kılıçarslan, Erdener Özer, Derya Erçal, Özlem G Bozkaya
Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum...
March 9, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29510395/a-comparative-chromosome-mapping-study-in-japanese-podismini-grasshoppers-orthoptera-acrididae-melanoplinae
#17
Beata Grzywacz, Haruki Tatsuta, Kei-Ichiro Shikata, Elżbieta Warchałowska-Śliwa
In the present paper, karyotypes of 7 Japanese Podismini species, Anapodisma beybienkoi, Fruhstorferiola okinawaensis, Parapodisma caelestis, P. mikado, P. setouchiensis, P. tenryuensis, and Sinopodisma punctata (2n♂ = 21, all acrocentric), are described and compared on the basis of conventional (C-banding, DAPI/CMA3-staining, Ag-NOR) and molecular (FISH with 18S rDNA and telomeric probes) cytogenetic staining methods. This is the first study to report karyotypes of A. beybienkoi and P. caelestis. Differential staining techniques showed karyotypic diversity in these species...
March 7, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29510377/mir-519d-3p-inhibits-cell-proliferation-and-invasion-of-gastric-cancer-by-downregulating-b-cell-lymphoma-6
#18
Yong-Yuan Li, Jian-Ping Shao, Shu-Peng Zhang, Guo-Qiang Xing, Hong-Jie Liu
miR-519d inhibits cell growth, migration, and invasion, but its role in gastric cancer (GC) cells is obscure. We showed that miR-519d-3p was lowly expressed in GC tissues and was associated with the clinical stage and lymph node metastasis of GC tissues. We found that miR-519d-3p repressed cell proliferation and invasion of MGC803 cells and delayed the G1/S phase transition, resulting in decreased cyclin B1 and MMP2 and increased E-cadherin levels. Furthermore, miR-519d-3p targeted and downregulated B-cell lymphoma 6 (BCL6) expression...
March 7, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29495006/heterozygosity-and-chain-multivalents-during-meiosis-illustrate-ongoing-evolution-as-a-result-of-multiple-holokinetic-chromosome-fusions-in-the-genus-melinaea-lepidoptera-nymphalidae
#19
Melanie McClure, Bernard Dutrillaux, Anne-Marie Dutrillaux, Vladimir Lukhtanov, Marianne Elias
Mitotic and meiotic chromosomes from 2 taxa of the genus Melinaea, M. satevis cydon and M. "satevis" tarapotensis (Lepidoptera: Nymphalidae), and from hybrids produced in captivity were obtained using an improved spreading technique and were subsequently analyzed. In one of the taxa, the presence of trivalents and tetravalents at diakinesis/metaphase I is indicative of heterozygosity for multiple chromosome fusions or fissions, which might explain the highly variable number of chromosomes previously reported in this genus...
March 2, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29490292/top3b-a-novel-candidate-gene-in-juvenile-myoclonic-epilepsy
#20
Marwa Daghsni, Saida Lahbib, Mohamed Fradj, Marwa Sayeb, Wided Kelmemi, Lilia Kraoua, Mariem Kchaou, Faouzi Maazoul, Slim Echebbi, Nadia Ben Ali, Sonia Abdelhak, Ridha M'rad
Juvenile myoclonic epilepsy (JME) is characterized by seizures, severe cognitive abnormalities, and behavior impairments. These features could evolve over time and get worse, especially when the encephalopathy is pharmacoresistant. Thus, genetic studies should provide a better understanding of infantile epilepsy syndromes. Herein, we investigate the genetics of JME in a consanguineous family analyzing the copy number variations detected using over 700 K SNP arrays. We identified a 254-kb deletion in the 22q11...
February 28, 2018: Cytogenetic and Genome Research
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