In the present study, the authors investigated chromosomal fragility in patients with schizophrenia, and compared the patients, who were positive for minor physical anomalies (MPAs) with those who were negative for MPAs in respect to chromosome fragility. 44 patients with schizophrenia were examined and compared to 23 matched healthy controls. A modified Waldrop-scale was used for evaluation of...

Background: Prenatal diagnosis for Fetal Chromosomal anomalies currently relies on assessment of risk followed by a combination of biochemical and nuchal translucency. Trisomy 21 is the most common trisomy that is associated with intellectual disability. Pregnant women who receive a prenatal diagnosis of trisomy 21 currently have the option of continuing or terminating their pregnancy, but no f...

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...

OBJECTIVE A long-term retrospective analysis of 103 infants with anorectal malformations (ARMs) was conducted to describe any associated congenital anomalies and surgical classifications. DESIGN Retrospective medical record review. SETTING This case series was conducted on all infants with ARMs born at, or referred to, any of 3 major medical centers in Wichita, Kan, for close to a 22-year p...

Fluorescence in situ hybridization analysis, performed with chromosome specific DNA probes labeled with fluorochromes, is a simple and reliable tool for the indirect study of aneuploidies in interphase cells such as spermatozoa. It is known that infertile male patients with poor sperm quality, due to different causes, produce cytogenetically abnormal spermatozoa despite a normal constitutional ...

BACKGROUND Limb anomalies rank behind congenital heart disease as the most common birth defects observed in infants. More than 50 classifications for limb anomalies based on morphology and osseous anatomy have been drafted over the past 150 years. The present work aims to provide a concise summary of the most common congenital limb anomalies on a morpho-etiological basis. PATIENTS AND METHODS...

Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies. However, we are unaware of any population studies examining pregnancy terminations after diagnosis of chromosomal anomalies that has included all aneuploidies an...