نتایج جستجو برای: sex chromosome aneuploidy

تعداد نتایج: 324194  

2016
C. Coroleucă

Correspondence: Dr. C.A. Ionescu e-mail: antoniuginec@ yahoo.com After numerous clinical validation studies, non-invasive prenatal testing for fetal aneuploidy detection is now a clinical reality. While non-invasive prenatal testing was accepted due to the high accuracy for fetal trisomy (21, 18 and 13) detection, recent research showed that genome-wide analysis is able to detect other fetal an...

Journal: :Molecular Cytogenetics 2021

Abstract Objective To assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and decisions in cases. Materials methods We retrospectively analysed 45,773 singleton pregnancies that were subjected to NIPT Maternity Child Health Hospital Anhui Province. The results validated ...

Journal: :American journal of epidemiology 2002
Lynn L Moore M Loring Bradlee Martha R Singer Kenneth J Rothman Aubrey Milunsky

A limited body of data over the past 35 years has suggested that autoimmunity may be responsible for some cases of aneuploidy. The role of diabetes mellitus in the etiology of chromosomal anomalies has been infrequently studied. This study was designed to compare the prevalence of chromosome abnormalities among the offspring of women with gestational diabetes and the offspring of women without ...

Journal: :Environmental and molecular mutagenesis 1996
T Hassold M Abruzzo K Adkins D Griffin M Merrill E Millie D Saker J Shen M Zaragoza

Chromosome abnormalities occur with astonishing frequency in humans, being present in an estimated 1030% of all fertilized eggs. Of the different classes of chromosome abnormality, aneuploidy (trisomy and monosomy) is by far the most common and, clinically, the most important. For example, over 25% of all miscarriages are monosomic or trisomic, making aneuploidy the leading known cause of pregn...

Journal: :medical journal of islamic republic of iran 0
seyed mojtaba mohaddes department of medical genetics, faculty of medicine, tabriz university of medical sciences, tabriz, iranسازمان اصلی تایید شده: دانشگاه علوم پزشکی تبریز (tabriz university of medical sciences) shohreh shargh simin tagavi

abstract  background: mosaic form of turner syndrome that represented by two or more  cell lines in an affected individual, often has limitation for detection with classical  cytogenetic methods. the present study was carried out to compare the efficiency of  interphase fluorescence in situ hybridisation (fish) and cytogenetic techniques in  detection of mosaic form of turner syndrome.  methods...

Journal: :Environmental and molecular mutagenesis 2012
Zhiying Ji Rosana H Weldon Francesco Marchetti Howard Chen Guilan Li Caihong Xing Elaine Kurtovich Suzanne Young Thomas E Schmid Suramya Waidyanatha Stephen Rappaport Luoping Zhang Brenda Eskenazi

Benzene is a primary industrial chemical and a ubiquitous environmental pollutant that causes human leukemia and maybe other malignancies. Occupational exposure to benzene has been associated with increased chromosomal aneuploidies in blood lymphocytes and, in separate studies, in sperm. However, aneuploidy detection in somatic and germ cells within the same benzene-exposed individuals has neve...

2016
Holly L Snyder Kirsten J Curnow Sucheta Bhatt Diana W Bianchi

OBJECTIVES To determine the underlying biological basis for noninvasive prenatal testing (NIPT) results of multiple aneuploidies or autosomal monosomies. METHODS Retrospective analysis of 113,415 tests to determine the study cohort, consisting of 138 (0.12%) cases reported as a single autosomal monosomy (n = 65), single trisomy with a sex chromosome aneuploidy (n = 36), or with multiple aneup...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید