Human ring chromosomes (RCs) are rare diseases with an estimated newborn incidence of
1/50,000 and an annual occurrence of 2,800 patients globally. Over the past 60 years …

Embryonic chromosome abnormalities are the most important causes of early spontaneous
abortions. The aim of this study was to evaluate the spectrum and the frequencies of …

Liver metastases are secondary malignant tumor formations due to the dissemination of
primary malignant tumors, which are often the first clinical manifestation of mammary cancer …

Background: Polyploidy is a rare lethal cytogenetic anomaly in pregnancies, generally
leading to pregnancy termination. This study aims to compare first and second trimester …

Duplications of chromosome 8p lead to rare genetic conditions characterized by variable
phenotypes. 8p21 and 8p23 duplications were associated with mental retardation but only …

This study represents our second investigation into NIPT, involving a more extensive patient
cohort with a specific emphasis on the high-risk group. The high-risk group was …

We describe the case of a male newborn with ring chromosome 13 found to have
dysmorphic features, growth retardation, imperforate anus, and ambiguous genitalia. An …

Background A 46, XY sex reversal syndrome is characterized by discordant genetic and
phenotypic sex, leading to normal external female genitalia, undeveloped gonads and …

Individuals with ring chromosome 13 may show characteristics observed in a deletion
syndrome and could present a set of dismorphies along with intellectual disability, according …

Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A
ring chromosome forms when due to deletion both ends of chromosome fuse with each …