Gudmundsrud, Ruben Skjånes, Tarjei H. Gilmour, Brian C. Caponio, Domenica Lautrup, Sofie Fang, Evandro F.
Published in
Cytogenetic and Genome Research
Werner syndrome (WS) is an accelerated ageing disease caused by multiple mutations in the gene encoding the Werner DNA helicase (WRN). The major clinical features of WS include wrinkles, grey hair, osteoporosis, and metabolic phenomena such as atherosclerosis, diabetes, and fatty liver, and resemble those seen in normal ageing, but occur earlier, i...
Kimura, Aoi Yahashi, Satowa Chatani, Fumio Tanabe, Hideyuki
Published in
Cytogenetic and Genome Research
A female cynomolgus monkey ( Macaca fascicularis ) with facial features characteristic of Down syndrome showed abnormal behavior, unwariness toward humans, and poor concentration. The number of metaphase chromosomes in blood lymphocytes was examined and found to be 43, which indicated one extra chromosome to the normal diploid number (2n = 42). We ...
Wu, Dandan Zhu, Xiaoxia Tan, Lu Zhang, Haiqin Sha, Lina Fan, Xing Wang, Yi Kang, Houyang Lu, Jiale Zhou, Yonghong
...
Published in
Cytogenetic and Genome Research
The genera of the tribe Triticeae (family Poaceae), constituting many economically important plants with abundant genetic resources, carry genomes such as St, H, P, and Y. The genome symbol of Roegneria C. Koch (Triticeae) is StY. The St and Y genomes are crucial in Triticeae, and tetraploid StY species participate extensively in polyploid speciati...
Karaman Mercan, Tuğba Altiok Clark, Ozden Erkal, Ozgur Nur, Banu Mihci, Ercan Karaman, Birsen Senol, Abdullah Utku Berker Karauzum, Sibel
Published in
Cytogenetic and Genome Research
Terminal deletions in the long arm of chromosome 4 are an uncommon event, with a worldwide incidence of approximately 0.001%. The majority of these deletions occur de novo. Terminal deletion cases are usually accompanied by clinical findings that include facial and cardiac anomalies, as well as intellectual disability. In this study, we describe th...
Souza, José Guimarães, Erika Pinheiro-Figliuolo, Vanessa Cioffi, Marcelo B. Bertollo, Luiz A.C. Feldberg, Eliana
Published in
Cytogenetic and Genome Research
Ctenoluciidae (Characiformes), a family of freshwater fishes, comprises 2 genera, Ctenolucius and Boulengerella, with 7 recognized species. Up to now, only species of the genus Boulengerella have been subjected to cytogenetic studies. Here, we investigated the karyotype and other cytogenetic features of pike characin, Ctenolucius hujeta, using conv...
Carvalho, Daniel R. Moretto, Ana Luisa L. Schneider, Marcia Formigli, Lia M.
Published in
Cytogenetic and Genome Research
Pure partial duplications of the long arm of chromosome 16 are rare and few cases are described with delineation by chromosomal microarray. Data about clinical abnormalities of pure partial 16q duplications are incomplete because many individuals die during the perinatal period. We describe the clinical features of a 47-month-old Brazilian girl wit...
Tavares, Mara G. Teixeira, Gisele A.
Published in
Cytogenetic and Genome Research
Eumeninae represents the largest subfamily within Vespidae, with 3,600 species described. Of these, only 18 have been cytogenetically analysed. In the present study, we used both classical and molecular techniques to characterise and compare the karyotypes of 3 Eumeninae species, namely, Ancistrocerus sp., Pachodynerus grandis, and Pachodynerus nas...
Zhang, Xueluo Fan, Junmei Chen, Yanhua Wang, Jun Song, Zhijiao Zhao, Jinghui Li, Zhongyun Wu, Xueqing Hu, Yuanjing
Published in
Cytogenetic and Genome Research
In the present study, we retrospectively recruited 340 patients who underwent spontaneous abortions to investigate chromosomal abnormalities of the conception products in the first trimester. We also performed a relevant analysis of clinical factors. Of these patients, 165 had conception products with chromosomal abnormalities, including 135 aneupl...
Kuroda, Masamichi Shibata, Kiko Fujimoto, Takafumi Murakami, Masaru Yamaha, Etsuro Arai, Katsutoshi
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Cytogenetic and Genome Research
In dojo loach (Misgurnus anguillicaudatus), although most wild types are gonochoristic diploids that are genetically differentiated into 2 groups, A and B, clonal lineages appear in certain localities. Clonal loaches have been considered to have hybrid origins between the 2 groups by a series of genetic studies. In this study, using FISH with a new...
Niu, Chang-Min Xia, Meng-Meng Zhong, Ya-Nan Zheng, Ying
Published in
Cytogenetic and Genome Research
The barrier-to-autointegration factor (BAF) is widely expressed in most human tissues and plays a critical role in chromatin organization, nuclear envelope assembly, gonadal development, and embryonic stem cell self-renewal. Complete loss of BAF has been shown to lead to embryonic lethality and gonadal defects. The BAF paralog, namely, barrier-to-a...
