Objective. To assess the diagnostic relevance of incidental prenatal findings of sex chromosome aneuploidies. Methods. We searched with medical subject headings (MeSHs) and keywords in Medline and the Cochrane Library and systematically screened publications on postnatally diagnosed sex chromosomal aneuploidies from 2006 to 2011 as well as publications on incidentally prenatally diagnosed sex c...

MOTIVATION Chromosomal copy number changes (aneuploidies) are common in cell populations that undergo multiple cell divisions including yeast strains, cell lines and tumor cells. Identification of aneuploidies is critical in evolutionary studies, where changes in copy number serve an adaptive purpose, as well as in cancer studies, where amplifications and deletions of chromosomal regions have b...

The chromosomal aneuploidies were analyzed even in the sperm extracted from testis with regard to the different conditions determining azoospermia including groups with nonobstructive azoospermia and in severe oligozoospermia with high Follicle Stimulating Hormone (FSH) levels [6]. To the best of our knowledge, reports showing values of sperm aneuploidies in presence of high FSH levels are lack...

background: the major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, x and y. because multiplex ligation-dependent probe amplification (mlpa) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. objective:  to evaluate the sensitiv...

OBJECTIVE To assess the value of ductus venosus pulsatility index for veins (DV PIV) in screening for aneuploidies at 11-13 weeks' gestation. METHODS Fetal DV PIV was measured in singleton pregnancies undergoing first-trimester screening for aneuploidies. In euploid (n = 44,756) and aneuploid (202 cases of trisomy 21, 72 cases of trisomy 18 and 30 cases of trisomy 13) fetuses, DV PIV was best...

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...

AIM To investigate the occurrence of chromosome 3, 7, 8, 9, and 17 aneuploidies, TP53 gene deletion and p53 protein expression in chronic gastritis, atrophic gastritis and gastric ulcer, and their association with H pylori infection. METHODS Gastric biopsies from normal mucosa (NM, n=10), chronic gastritis (CG, n=38), atrophic gastritis (CAG, n=13) and gastric ulcer (GU, n=21) were studied us...

Objective: The aim of this study was to investigate the success and reliability QF-PCR analysis in detecting chromosomal abnormalities determine its advantages limitations. Methods: Patients who underwent karyotype as a prenatal invasive diagnostic test tertiary center were retrospectively analyzed. Invasive genetic indications, ultrasonographic fetal screening reports, results patients obtaine...

AIM Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia. METHOD Genome-wide single nucleotide polymorphism genotyping was performed in thre...

BACKGROUND The major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, X and Y. Because multiplex ligation-dependent probe amplification (MLPA) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. OBJECTIVE To evaluate the sensitivi...