Prenatal screening is a crucial method employed during the fetal stage to detect and intervene early, thereby ensuring health of newborn babies. This approach serves enhance overall quality population mitigate severe consequences associated with birth defects. encompasses various techniques, including epidemiological investigations, imaging ultrasound, maternal blood screening, amniotic fluid b...

background and objectives: primary amenorrhea is not a disease but a symptom that may result from several quite different causes[nn1] . common hormonal cause of primary amenorrhea includes constitutional delay, hypothalamic –pituitary dysfunction, chronic systemic disease and absent ovarian function. the aim of this study was to estimate the incidence of the chromosomal abnormality referred for...

Turner syndrome (TS) is the most common cause of short stature and delayed puberty in females. Approximately half patients have classic form with a genotype 45,XO, one-fourth different mosaic forms, remaining structural abnormalities on X chromosome. Among abnormalities, isochromosome Xq. Females variants TS can present menarche, amenorrhea, infertility rather than manifestations TS. This study...

The renewed interest in the study of chromosome abnormalities in hematologic malignancies, particularly in the leukemias, is the result of technical improvements which permit the precise identification of each human chromosome, and of parts of chromosomes as well. The information obtained raises a number of questions regarding the validity of older notions, such as the variability of the chromo...

The case is briefly reported of a 7-month-old boy with a disseminated neuroblastoma, whose marrow showed neuroblastoma rosettes and on direct examination on two occasions revealed a high proportion of cells with 48 chromosomes forming an abnormal cell line.

introduction: infertility is a significant multifactorial disorder that can be caused by chromosomal abnormalities. in this study, we aimed to cytogenetically investigate male and female patients admitted to the genetic diagnostic laboratory of kayseri educational hospital in kayseri, turkey with varied clinical prediagnoses of infertility. materials and methods: chromosomes from cultured perip...

Background Cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. Approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (RSAs). The aim of this study was to detect chromosome abnormalities in couples with RSAs and to compare our results with those reported previously. Materia...