نتایج جستجو برای: aneuploidies

تعداد نتایج: 929  

Journal: :Journal of medical genetics 1999
R Valero G Marfany R Gil-Benso M A Ibáñez I López-Pajares F Prieto G Rullan E Sarret R Gonzàlez-Duarte

Although trisomy of chromosome 21 is the most prevalent human genetic disorder, data from partial 21 aneuploidies are very scanty. Eight different partial aneuploidies for chromosome 21 were characterised by fluorescence quantitative PCR. Allelic dosage analysis was performed for each patient using 25 CHLC STRs covering the entire q arm. The length of the corresponding trisomies and monosomies ...

Journal: :Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2012
T Raudsepp P J Das F Avila B P Chowdhary

The pseudoautosomal region (PAR) is a unique and specialized segment on the mammalian sex chromosomes with known functions in male meiosis and fertility. Detailed molecular studies of the region in human and mouse show dramatic differences between the 2 PARs. Recent mapping efforts in horse, dog/cat, cattle/ruminants, pig and alpaca indicate that the PAR also varies in size and gene content bet...

Journal: : 2022

Numerical abnormalities of karyotype are the result genome mutations. Unlike gene and chromosomal abnormalities, mutations do not disrupt structure DNA or chromosomes. The cause numerical changes in is a violation mechanism chromosome segregation during meiosis mitosis. Like other mutations, natural for increasing genetic diversity offspring. At same time, humans usually have negative effects a...

Journal: :Genetics and molecular research : GMR 2013
A-Q Xu M Xia J-T Liu F-X Yao W-M Zhang N Hao J Zhou X-M Bian

Quantitative fluorescent polymerase chain reaction (QF-PCR) is an accurate and reliable method for rapid detection of aneuploidy; however, it is not routinely used in China. We aimed to validate QF-PCR as a means for prenatal common aneuploidy screening and to analyze the heterozygosities of short tandem repeat (STR) markers in the Chinese population. The sequences of 19 STR markers in chromoso...

Journal: :Human reproduction 2008
Robert P S Jansen Mark C Bowman Kylie A de Boer Don A Leigh Devora B Lieberman Steven J McArthur

Blastocysts more commonly have a normal karyotype than cleavage-stage embryos do. Moreover, blastocysts have also made a metabolic transition from catabolism and recycling of the oocyte's reserves and resources, processes that fuel the first 3 days of cleavage. Although not all blastocysts are karyotypically equal, it is still to be determined to what extent a mosaic karyotype might be a normal...

Journal: :Toxicological sciences : an official journal of the Society of Toxicology 2012
Stefanie Kuehner Martina Schlaier Klaus Schwarz Günter Speit

A recently published human study suggested that exposure to formaldehyde (FA) at the workplace might induce leukemia-specific aneuploidies (monosomy 7 and trisomy 8) in cultured myeloid progenitor cells. Despite its preliminary character, this study was considered by the International Agency for Research on Cancer to be a potential mechanistic explanation for the induction of leukemia by FA. To...

Journal: :Fetal diagnosis and therapy 2010
Ranjit Akolekar José María Pérez Penco Evdoxia Skyfta Jesús Rodríguez Calvo Kypros H Nicolaides

OBJECTIVE To investigate whether the maternal serum concentration of placental protein 13 (PP13) is altered in chromosomally abnormal pregnancies and to examine the potential value of this placental protein in screening for aneuploidies at 11-13 weeks. METHODS The maternal serum concentration of PP13 at 11-13 weeks was compared in 536 euploid and 134 aneuploid pregnancies (trisomy 21: n = 49;...

Journal: :Clinical chemistry and laboratory medicine 2011
Chan-Kyung J Cho Eleftherios P Diamandis

Current screening for fetal aneuploidies relies on biochemical and ultrasound measurements, and the sensitivity and specificity needs to be improved to reduce the number of pregnant women subjected to invasive diagnostic procedures, such as amniocentesis. Proteomic technologies enable new strategies for discovering biomarkers from complex biological fluids in a high-throughput and sensitive man...

2014
Benjamin D. Harrison Jordan Hashemi Maayan Bibi Rebecca Pulver Danny Bavli Yaakov Nahmias Melanie Wellington Guillermo Sapiro Judith Berman

Candida albicans, the most prevalent human fungal pathogen, is generally diploid. However, 50% of isolates that are resistant to fluconazole (FLC), the most widely used antifungal, are aneuploid and some aneuploidies can confer FLC resistance. To ask if FLC exposure causes or only selects for aneuploidy, we analyzed diploid strains during exposure to FLC using flow cytometry and epifluorescence...

Journal: :Current Biology 2010
Teresa Chiang Francesca E. Duncan Karen Schindler Richard M. Schultz Michael A. Lampson

Aneuploidy arising early in development is the leading genetic cause of birth defects and developmental disabilities in humans. Most errors in chromosome number originate from the egg, and maternal age is well established as the key risk factor. Although the importance of this problem for reproductive health is widely recognized, the underlying molecular basis for age-related aneuploidy in fema...

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