Bellucco, Fernanda T. Favilla, Bianca P. Perrone, Eduardo Melaragno, Maria I.
Published in
Cytogenetic and Genome Research
Several patients with 5p duplication or 15q deletion have been reported in the literature, involving different chromosome regions and clinical features. Here, we describe a family in which we identified a 30-Mb 5p15.33p13.3 gain and a 2.5-Mb 15q26.3 loss in 3 individuals, due to a balanced familial translocation between chromosomes 5p and 15q. They...
Greither, Thomas Schumacher, Julia Dejung, Mario Behre, Hermann M. Zischler, Hans Butter, Falk Herlyn, Holger
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Cytogenetic and Genome Research
Impairment of male fertility is one of the major public health issues worldwide. Nevertheless, genetic causes of male sub- and infertility can often only be suspected due to the lack of reliable and easy-to-use routine tests. Yet, the development of a marker panel is complicated by the large quantity of potentially predictive markers. Actually, hun...
Ferreira, Milena de Jesus, Isac S. Viana, Patrik F. Garcia, Caroline Matoso, Daniele A. Cioffi, Marcelo B. Bertollo, Luiz A.C. Feldberg, Eliana
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Cytogenetic and Genome Research
The family Aspredinidae comprises a clade of complex systematic relationships, both from molecular and morphological approaches. In this study, conventional and molecular cytogenetic studies coupled with nucleotide sequencing were performed in 6 Aspredininae species (Amaralia hypsiura, Bunocephalus cf. aloikae, Bunocephalus amaurus, Bunocephalus af...
Alam, Shayer M.I. Sarre, Stephen D. Georges, Arthur Ezaz, Tariq
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Cytogenetic and Genome Research
Agamid lizards (Squamata: Agamidae) are karyotypically heterogeneous. Among the 101 species currently described from Australia, all are from the subfamily Amphibolurinae. This group is, with some exceptions, karyotypically conserved, and all species involving heterogametic sex show female heterogamety. Here, we describe the chromosomes of 2 additio...
Setiawan, Agus B. Teo, Chee H. Kikuchi, Shinji Sassa, Hidenori Kato, Kenji Koba, Takato
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Cytogenetic and Genome Research
Mobile elements are major regulators of genome evolution through their effects on genome size and chromosome structure in higher organisms. Non-long terminal repeat (non-LTR) retrotransposons, one of the subclasses of transposons, are specifically inserted into repetitive DNA sequences. While studies on the insertion of non-LTR retrotransposons int...
Kalay Yildizhan, Incilay Gökpınar İli, Ezgi Onoufriadis, Alexandros Kocyigit, Pelin Kesidou, Evangelia Simpson, Michael A. McGrath, John A. Kutlay, Nüket Yürür Kundakci, Nihal
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Cytogenetic and Genome Research
Sterol-C4-methyl oxidase (SC4MOL) deficiency was recently described as an autosomal recessive cholesterol biosynthesis disorder caused by mutations in the MSMO1 (sometimes also referred to as SC4MOL) gene. To date, 5 patients from 4 unrelated families with SC4MOL deficiency have been reported. Diagnosis can be challenging as the biochemical accumul...
Mendoza, Mayra N. Schalnus, Sam A. Thomson, Bitsy Bellone, Rebecca R. Juras, Rytis Raudsepp, Terje
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Cytogenetic and Genome Research
Complex structural X chromosome abnormalities are rare in humans and animals, and not recurrent. Yet, each case provides a fascinating opportunity to evaluate X chromosome content and functional status in relation to the effect on the phenotype. Here, we report the first equine case of a complex unbalanced X-autosome rearrangement in a healthy but ...
Ornelas-Arana, Martha L. Pérez-Garcia, Guillermo Robles-Espinoza, Carla D. Rangel-Sosa, Martha M. Castaneda-Garcia, Carolina Juárez-Vázquez, Clara I. López-Pérez, Leopoldo G. Pérez-Ornelas, Carolina Hernández-Zaragoza, Guillermo Lara-Aguilar, Ricardo A.
...
Published in
Cytogenetic and Genome Research
“Simple” 1-way interchromosomal insertions involving an interstitial 1q segment are rare, and therefore, their characterization at the base pair level remains understudied. Here, we describe the genomic characterization of a previously unreported de novo interchromosomal insertion (3;1) entailing an about 12-Mb pure gain of 1q21.3q23.3 that causes ...
Machado, Caroline R.D. Glugoski, Larissa Domit, Camila Pucci, Marcela B. Goldberg, Daphne W. Marinho, Layse A. da Costa, Gideão W.W.F. Nogaroto, Viviane Vicari, Marcelo R.
Published in
Cytogenetic and Genome Research
Sea turtles are considered flagship species for marine biodiversity conservation and are considered to be at varying risk of extinction globally. Cases of hybridism have been reported in sea turtles, but chromosomal analyses are limited to classical karyotype descriptions and a few molecular cytogenetic studies. In order to compare karyotypes and u...
Olmo, Ettore
Published in
Cytogenetic and Genome Research
