79 Abstract: Experimental cages started with a mixture of flies at three different ratios (1:9, 5:5, 9:1) from populations having heterosomal and autosomal sex–determining mechanisms were cytogenetically examined over six generations at two different temperatures (25 °C and 35 °C). In general, there was an increase in the frequency of XX males in all competitive population cages. Abnormal teste...

The identification of cell-free fetal DNA (cffDNA) in maternal plasma in 1997 heralded the most significant change in obstetric care for decades, with the advent of safer screening and diagnosis based on analysis of maternal blood. Here, we describe how the technological advances offered by next-generation sequencing have allowed for the development of a highly sensitive screening test for aneu...

49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation. Psychological, endocrinologic and orthopedic disorders constitute the major problems in the clinical follow-up. Sex chromosome abnormalities should especially be kept in mind ...

Background: Sex chromosome aneuploidies (SCAs) are characterized by the gain or loss of entire parts sex chromosomes.Methods: In 5212 cases studied over last 10 years in Medical Genetics Department, we found 3793 (72.78%) other chromosomal establishments and 1419 (27.22%) using retrospective archive-file scanning method.Results: 839 (31.32%) with anomalies were female, 580 (22.8%) male. While T...

Massively parallel sequencing of cell-free, maternal plasma DNA was recently demonstrated to be a safe and effective screening method for fetal chromosomal aneuploidies. Here, we report an improved sequencing method achieving significantly increased throughput and decreased cost by replacing laborious sequencing library preparation steps with PCR employing a single primer pair designed to ampli...