We present the case of a monozygotic twin pregnancy discordant for phenotype and karyotype. A chorionic villus sample was performed at the 11th week of gestation in a primigravida because of cystic hygroma detected by ultrasound in one twin of a monochorionic, biamniotic pregnancy. Rapid testing by means of quantitative fluorescence polymerase chain reaction and conventional karyotyping, obtain...

In the present paper we report an extremely rare case of mosaicism of 45,X/47,XX,+13 in a 28-year-old women. The patient was referred for cytogenetic evaluation for secondary amenorrhoea. The patient was found to have some mild characteristic features of Turner syndrome such as wide carrying angle and short stature. Ultrasound examination revealed the presence of a small sized uterus and bilate...

BACKGROUND Cardiovascular diseases account for a threefold higher mortality in women with Turner syndrome (TS). It has also been suggested that the occurrence of these diseases is dependent on karyotype. AIM To assess the cardiovascular system by clinical examination, echocardiography and electrocardiography in female patients with TS, depending on karyotype. PATIENTS AND METHODS Thirty-fou...

The capacity of sex to modify behavior in health and illness may stem from biological differences between males and females. One such difference--fundamental to the biological definition of sex--is inequality of X chromosome dosage. Studies of Turner Syndrome (TS) suggest that X-monosomy profoundly alters mammalian brain development. However, use of TS as a model for X chromosome haploinsuffici...

First trimester spontaneous abortions occur in 15 to 20% of all clinically recognized pregnancies. Chromosomal -anomalies are responsible for more than 50% of spontaneous abortions. The majority (90%) of these chromosomal anomalies are numerical, particularly autosomal trisomies (involving chromosomes 13,16, 18, 21, 22), polyploidy and monosomy X. At birth chromosomal anomalies are still an imp...

We thank Dr Ozcelik for his careful reading of our review and his thoughtful letter. Dr Ozcelik raises the issue of nonequivalence of monosomy X frequency and X-chromosome inactivation pattern (XCIP). The first refers to the proportion of cells with a single X chromosome, wherein transcription occurs from the lone X chromosome. The second refers to the ratio of inactivated maternal to paternal ...

Approximately 10-15% of all pregnancies end in spontaneous abortions. Many factors can lead to embryonic loss; however, it has been well established that over 50% of all miscarriages result from chromosomal abnormalities, primarily aneuploidies (>96%). Identifying the cause of miscarriage can significantly reduce the psychological stress in women, and enable better genetic counseling for a futu...

Objective: The objective of the present study was to describe the phenotypic features of Turner syndrome (TS) and to investigate the relationship between the genotype and the phenotype. Materials and Methods: We studied 26 female patients who were enrolled between 2006 and 2015. Physical features, clinical history, laboratory findings, and imaging test results were recorded. Chromosomal analysi...