Objectives: The aim of this study was to evaluate of fetal chromosome analysis in amniocentesis and fetal blood sampling cases. Method: We analysis of 649 cases between January 2007March 2009 in Dicle University Medical Faculty Department of Genetic. The study was included 552 amniocentesis and 97 fetal blood sampling cases. Lymphocyte culture prepared in duplicate and totally ten slides were p...

Rapid prenatal diagnostic tests are now increasingly popular, either as a stand-alone test or associated with conventional karyotype. Their main advantages are maternal anxiety relief and low cost. However, the results are available in more than 48 hours from amniocentesis. We present a rapid fluorescence in situ hybridization (FISH) technique, modified to give prenatal diagnostic results in th...

Turner syndrome is a chromosomal abnormality. The majority of patients show monosomy of chromosome X (45, X), while a small number of patients present (45, X/47, XXX) karyotype. The present paper reported an extremely rare case of Turner syndrome with a special karyotype of 46, X, rea (X) (qter-->q22.3::p11.23-->qter). The female patients had some typical characteristics of Turner syndrome, inc...

The aim of this study was to evaluate the relationship between fetal karyotype and parental chromosomal abnormalities, and to provide a basis for clinical diagnosis and therapy in Northeast China. A total of 144 spontaneously aborted fetuses were analyzed by FISH to test for chromosome number and to recall couples for peripheral blood karyotype analysis. The rate of abnormal chorionic villus ch...

The Aim. Ring chromosome 15 is a very rare genetic abnormality with a wide spectrum of clinical findings. Up to date, about 50 cases have been documented, whereas no reports on ophthalmological treatment of such patients have been published. The aim of this study is not only to describe a new patient, but also, for the first time, to present the results of nonoperative management of divergent s...

Evolution of chromosome complements can be resolved by genome sequencing, comparative genetic mapping, and comparative chromosome painting. Previously, comparison of genetic maps and gene-based phylogenies suggested that the karyotypes of Arabidopsis thaliana (n = 5) and of related species with six or seven chromosome pairs were derived from an ancestral karyotype with eight chromosome pairs. T...

Turner syndrome (TS) is associated with decreased bone mineral density and increased fracture rate. However, the developmental trajectory of bone density or body composition in patients with TS is still unclear. The present study tested the hypothesis that different karyotypes and/or age contributes to abnormal body composition and decreased bone mineral status parameters in patients with TS. T...

The purpose of this study was to determine the deep sequencing and analytic conditions needed to detect fetal subchromosome abnormalities across the genome from a maternal blood sample. Cell-free (cf) DNA was isolated from the plasma of 11 pregnant women carrying fetuses with subchromosomal duplications and deletions, translocations, mosaicism, and trisomy 20 diagnosed by metaphase karyotype. M...

BACKGROUND AND OBJECTIVE Patients with AML, RAEB-t, or RAEB and abnormalities involving chromosomes 5 and/or 7 (-5, -7) generally, but not always, have poorer prognoses than patients with a normal karyotype. Our objective was to see whether the occasional relatively favorable outcome in -5/-7 patients is a random event or, rather, reflects true heterogeneity in -5/-7. DESIGN AND METHODS We ex...