Features of clinical manifestations in a child with ring chromosome 13 syndrome in the neonatal period

Ring chromosome formations are one of the rare genetic anomalies with a prevalence of 1:25,000 — 1:62,000 newborns. Ring chromosomes are formed as a result of sporadic terminal deletions of chromosomal arms, which then “stick together” and form a ring. In 1% of cases, ring chromosomes are inherited from parents. Chromosome 13 ring syndrome is a genetic disorder caused by an anomaly in chromosome 13. This syndrome is rare and is usually associated with a widely varying phenotype (from mild to severe). At the same time, the nature of clinical manifestations is associated with the length of the lost section of the chromosome and, as a result, the number of lost genes. The disease leads to a number of disorders: intrauterine growth retardation, short stature, moderate to severe moderate to severe intellectual disability, microcephaly, facial dysmorphic disorder, limb abnormalities and genital abnormalities. Additional signs have been reported, including behavioral problems, hearing and speech disorders, congenital heart defects, brain malformations, and anal atresia. The main diagnostic method is karyotyping, and the research material can be both amniotic fluid (prenatal diagnosis) and tissues of an already born child (postnatal diagnosis). The article, using a clinical case description as an example, examines the mechanisms of occurrence, main aspects of clinical manifestations, diagnosis, treatment and prognosis in a child with ring chromosome 13 syndrome.