نتایج جستجو برای: amphidiploidy aneuploidy

تعداد نتایج: 5515  

Journal: :Prenatal diagnosis 2004
Santiago Munné Mireia Sandalinas Cristina Magli Luca Gianaroli Jacques Cohen Dorothy Warburton

OBJECTIVES To determine whether a history of a previous aneuploid conception increases the rate of aneuploidy among women having preimplantation diagnosis (PGD). METHODS Preimplantation embryos were tested for aneuploidy using FISH probes specific for chromosomes 13,15,16,17,18,21,22,X and Y. Using logistic regression to control for maternal age, we compared the rates of aneuploidy and other ...

2011
Mutlu Karkucak Sebnem Sag Tahsin Yakut Yalcin Kimya

Complex rearrangements such as de novo translocations together with aneuploidy are unusual situations in prenatal diagnosis. We report a case with de novo translocation t(1;12)(q21.3;p11.2) and trisomy 21. Father’s sperm was analyzed for potential of increased risk of aneuploidy. Results showed no paternal increased risk for chromosomes 13, 18, 21, X, Y. Based on our results, we suggest that po...

Background The tumor necrosis factor alpha (TNF-α) gene is a cytokine involved in systemic inflammation. Results of the association of its polymorphisms with infertility in men are controversial.  Objective The aim of this study was to evaluate the association of -308G/A polymorphism in TNF-α gene with different parameters of semen and sperm in infertile men.  Methods Participants were 210 me...

2013
Çetin Aydin Serenat Eris Yakup Yalcin Halime Sen Selim

Double aneuploidy, the existence of two chromosomal abnormalities in the same individual, is a rare condition. Early diagnosis of this condition is important to offer termination of pregnancy in genetic counselling. Cytogenetic analysis with amniocentesis and ultrasound examination is valuable for diagnosis of double aneuploidy. In this report we present a case with the karyotype of 48XXY+21 di...

Journal: :Human reproduction 2003
Nunziatina Burrello Enzo Vicari Paul Shin Ashok Agarwal Adele De Palma Caterina Grazioso Rosario D'Agata Aldo E Calogero

BACKGROUND A large proportion of patients undergoing ICSI have been shown to have an increased sperm aneuploidy rate. This study was undertaken to evaluate the impact of sperm aneuploidy on ICSI outcome. METHODS To accomplish this, 48 consecutive unselected male patients (median age 34 years) had their sperm aneuploidy rate evaluated in the same swim-up preparation used for ICSI. Chromosomes ...

2011
Rafaela C. Sartore Priscila B. Campos Cleber A. Trujillo Bia L. Ramalho Priscilla D. Negraes Bruna S. Paulsen Tamara Meletti Elaine S. Costa Leonardo Chicaybam Martin H. Bonamino Henning Ulrich Stevens K. Rehen

The existence of loss and gain of chromosomes, known as aneuploidy, has been previously described within the central nervous system. During development, at least one-third of neural progenitor cells (NPCs) are aneuploid. Notably, aneuploid NPCs may survive and functionally integrate into the mature neural circuitry. Given the unanswered significance of this phenomenon, we tested the hypothesis ...

Journal: :Reproductive biomedicine online 2000
C Márquez M Sandalinas M Bahçe M Alikani S Munné

The relationship was examined between chromosome abnormalities in cleavage stage human embryos and maternal age, embryo morphology and development rate. Embryos that were classified as suboptimal for transfer from patients undergoing IVF treatment were disaggregated, and all or most of their cells were fixed for analysis by fluorescence in-situ hybridization. Chromosomes X, Y, 13, 18 and 21, an...

Journal: :The journal of obstetrics and gynaecology research 2011
Xuan-Hong Tomai Jean-Pierre Schaaps Jean-Michel Foidart

AIMS The purpose of this study was to define the most suitable cut-off point for fetal nuchal translucency thickness in a screening program for aneuploidy and trisomy 21 in the south of Vietnam. MATERIAL & METHODS Two thousand and five hundred cases of singleton pregnancies were followed prospectively from the first trimester to the delivery. The rate of aneuploidy was calculated by seeking a...

Journal: :Fertility and sterility 1999
J Pfeffer M G Pang S F Hoegerman C J Osgood M W Stacey J Mayer S Oehninger W G Kearns

OBJECTIVE To determine aneuploidy frequencies in pellet and swim-up semen fractions from 10 infertile men with severe oligoasthenoteratozoospermia (OAT) who were donating sperm for intracytoplasmic sperm injection and to determine whether the swim-up isolation method would successfully separate aneuploid from haploid sperm. DESIGN Prospective study. SETTING Infertility clinic and molecular ...

Journal: :Carcinogenesis 2013
Moon-Taek Park Eun-Taex Oh Min-Jeong Song Hyemi Lee Eun Kyung Choi Heon Joo Park

Aneuploidy is the most common characteristic of human cancer cells. It also causes genomic instability, which is involved in the initiation of cancer development. Various lines of evidence indicate that nicotinamide adenine dinucleotide(P)H quinone oxidoreductase 1 (NQO1) plays an important role in cancer prevention, but the molecular mechanisms underlying this effect have not yet been fully el...

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