نتایج جستجو برای: sex chromosome aneuploidy

تعداد نتایج: 324194  

2013
Guillaume Martinez Pierre Gillois Marine Le Mitouard Rémy Borye Camille Esquerré-Lamare Véronique Satre Louis Bujan Sylviane Hennebicq

BACKGROUND Approximately 1% of the spermatozoa found in ejaculate of healthy men are aneuploid and this rate increases in the population of subfertile and infertile men. Moreover, fertilization with these aneuploid sperm can lead to impaired embryo development. Fluorescent In Situ Hybridization (FISH) is the common cytogenetic tool used for aneuploidy screening on sperm. However, it is a time-c...

2013
Min Ni Marianna Feretzaki Wenjun Li Anna Floyd-Averette Piotr Mieczkowski Fred S. Dietrich Joseph Heitman

Aneuploidy is known to be deleterious and underlies several common human diseases, including cancer and genetic disorders such as trisomy 21 in Down's syndrome. In contrast, aneuploidy can also be advantageous and in fungi confers antifungal drug resistance and enables rapid adaptive evolution. We report here that sexual reproduction generates phenotypic and genotypic diversity in the human pat...

Journal: :Mutagenesis 2011
Bianca Benassi-Evans Michael Fenech

Excessive alcohol consumption is associated with an increased risk of a variety of cancers. The specific association between alcohol consumption and increased risk of breast cancer has been a consistent finding in numerous studies to date; however, the biological mechanism remains unknown. One possibility is that alcohol induces chromosome instability and aneuploidy events commonly seen in canc...

2016

A – Transmissible paternal/maternal genetic alterations:  Diseases that affect a single gene or monogenic (dominant, recessive or X-linked), whose mutation is known and can be analysed.  X chromosome-linked disorders, whose gene is not known or has some heterogeneity, but is avoided with sex selection.  Structural chromosomal abnormalities such as Robertsonian or reciprocal translocations. B...

Journal: :Cytogenetic and genome research 2007
C A Smith K N Roeszler Q J Hudson A H Sinclair

Sex is determined genetically in all birds, but the underlying mechanism remains unknown. All species have a ZZ/ZW sex chromosome system characterised by female (ZW) heterogamety, but the chromosomes themselves can be heteromorphic (in most birds) or homomorphic (in the flightless ratites). Sex in birds might be determined by the dosage of a Z-linked gene (two in males, one in females) or by a ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2013
Huakun Zhang Yao Bian Xiaowan Gou Bo Zhu Chunming Xu Bao Qi Ning Li Sachin Rustgi Hao Zhou Fangpu Han Jiming Jiang Diter von Wettstein Bao Liu

Allopolyploidization has been a driving force in plant evolution. Formation of common wheat (Triticum aestivum L.) represents a classic example of successful speciation via allopolyploidy. Nevertheless, the immediate chromosomal consequences of allopolyploidization in wheat remain largely unexplored. We report here an in-depth investigation on transgenerational chromosomal variation in resynthe...

2014
Xingmei Xie Qiaoyi Liang

Sex chromosome aneuploidies occur commonly in the general population, with an incidence of 1 in 400 newborns. However, no tests specifically targeting sex chromosomes have been carried out in prenatal diagnosis or newborn screening, resulting in late recognition of these diseases. In this study, a rapid diagnostic method for sex chromosome aneuploidies was established using Quantitative Fluores...

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