نتایج جستجو برای: aneuploidies

تعداد نتایج: 929  

2017
Jiwu Lou Manna Sun Ying Zhao Zhisong Ji Fenghua Liu Dongzhi Li Wanfang Xu Yangyang Lin Yanhui Liu

BACKGROUND During the prenatal period, the number variation of chromosomes 13, 18, 21, X and Y accounts for more than 80% of the clinically significant chromosomal abnormalities diagnosed. Rapid tests for prenatal diagnosis of these abnormalities can improve pregnancy management and alleviate parental anxiety. Here, we present a molecular alternative method for detecting common aneuploidies. ...

Journal: :Cancer research 2004
Madhvi B Upender Jens K Habermann Lisa M McShane Edward L Korn J Carl Barrett Michael J Difilippantonio Thomas Ried

Chromosomal aneuploidies are observed in essentially all sporadic carcinomas. These aneuploidies result in tumor-specific patterns of genomic imbalances that are acquired early during tumorigenesis, continuously selected for and faithfully maintained in cancer cells. Although the paradigm of translocation induced oncogene activation in hematologic malignancies is firmly established, it is not k...

2012
María Vera Vanessa Peinado Nasser Al-Asmar Jennifer Gruhn Lorena Rodrigo Terry Hassold Carmen Rubio

Reports indicate that infertile males, especially those with low sperm count, have an increase in chromosomally-abnormal spermatozoa, therefore the study of these individuals is critical for the field of assisted reproduction. Importantly, aneuploid sperm remain able to fertilize eggs, often resulting in repetitive intracytoplasmic sperm injection (ICSI) failure, recurrent miscarriage, and offs...

Journal: :Seminars in cell & developmental biology 2015
Marie MacLennan James H Crichton Christopher J Playfoot Ian R Adams

Meiosis is one of the defining events in gametogenesis. Male and female germ cells both undergo one round of meiotic cell division during their development in order to reduce the ploidy of the gametes, and thereby maintain the ploidy of the species after fertilisation. However, there are some aspects of meiosis in the female germline, such as the prolonged arrest in dictyate, that appear to pre...

2017
Catherine Do Zhuo Xing Y Eugene Yu Benjamin Tycko

An important line of postgenomic research seeks to understand how genetic factors can influence epigenetic patterning. Here we review epigenetic effects of chromosomal aneuploidies, focusing on findings in Down syndrome (DS, trisomy 21). Recent work in human DS and mouse models has shown that the extra chromosome 21 acts in trans to produce epigenetic changes, including differential CpG methyla...

2016
Eun-Hae Cho

NIFTY test by BGI detects trisomies 13, 18, and 21 as well as some sex chromosome aneuploidies and selected microdeletions [3]. Verinata Health, a subsidiary of Illumina offers the Verifi test for detection of trisomies 13, 18, 21, and the presence of monosomy X. The expanded version of this test also detects other aneuploidies and microdeletions [4]. Compared to other NIPT techniques such as t...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2012
Jason M Sheltzer Eduardo M Torres Maitreya J Dunham Angelika Amon

Aneuploidy, or an aberrant karyotype, results in developmental disabilities and has been implicated in tumorigenesis. However, the causes of aneuploidy-induced phenotypes and the consequences of aneuploidy on cell physiology remain poorly understood. We have performed a metaanalysis on gene expression data from aneuploid cells in diverse organisms, including yeast, plants, mice, and humans. We ...

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