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.

1. Hu X.N., Li L.L., Shi Q.Y., Hu Z.M., Zhang H.G., Jiang Y.T., et al. Prenatal diagnosis of a fetus with mosaic ring chromosome 13: Case report and review of the literature. Taiwan J Obstet Gynecol 2021; 60(3): 554–558. DOI: 10.1016/j.tjog.2021.03.031

2. Chen C.P., Chen C.Y., Chern S.R., Chen S.W., Wu F.T., Chen W.L., et al. Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin. Taiwan J Obstet Gynecol 2021; 60(4): 771–774. DOI: 10.1016/j.tjog.2021.05.033

3. Chen C.P., Chen C.Y., Chern S.R., Wu P.S., Chen S.W., Lee C.C., et al. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis. Taiwan J Obstet Gynecol 2020; 59(1): 130–134. DOI: 10.1016/j.tjog.2019.11.021

4. Chen C.P., Lai T.H., Chen S.W., Chern S.R., Wu F.T., Wu P.S., et al. Low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with a favorable fetal outcome, intrauterine growth restriction, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and perinatal progressive decrease of the aneuploid cell line. Taiwan J Obstet Gynecol 2023; 62(3): 461–465. DOI: 10.1016/j.tjog.2023.03.009

5. Martin N.J., Harvey P.J., Pearn J.H. The ring chromosome 13 syndrome. Hum Genet 1982; 61(1): 18–23. DOI: 10.1007/BF00291324

6. Hollowell J.G., Littlefield L.G., Dharmkrong-AT A., Folger G.M., Heath C.W. Jr., Bloom G.E. Ring 13 chromosome with normal haptoglobin inheritance. J Med Genet 1971; 8(2): 222–226. DOI: 10.1136/jmg.8.2.222

7. Su P.H., Chen C.P., Su Y.N., Chen S.J., Lin L.L., Chen J.Y. Smallest critical region for microcephaly in a patient with mosaic ring chromosome 13. Genet Mol Res 2013; 12(2): 1311– 1317. DOI: 10.4238/2013.april.25.2

8. Rossi E., Messa J., Zuffardi O. Ring syndrome: still true? J Med Genet 2008; 45(11): 766–768. DOI: 10.1136/jmg.2008.060442

9. Fan M.R., Wang G.J., Yu X.Y. [Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case]. Zhongguo Dang Dai Er Ke Za Zhi 2018; 20(6): 485–489. Chinese DOI: 10.7499/j.issn.1008–8830.2018.06.011

10. Çakmaklı S., Çankaya T., Gürsoy S., Koç A., Kırbıyık Ö., Kılıçarslan Ö.A., et al. Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum. Cytogenet Genome Res 2017; 153(4): 175–180. DOI: 10.1159/000486775

11. Charalsawadi C., Maisrikhaw W., Praphanphoj V., Wirojanan J., Hansakunachai T., Roongpraiwan R., et al. A case with a ring chromosome 13 in a cohort of 203 children with non-syndromic autism and review of the cytogenetic literature. Cytogenet Genome Res 2014; 144(1): 1–8. DOI: 10.1159/000365909

12. Shilova N.V., Minzhenkova M.E., Markova Zh.G., Tarlycheva A.A., Yurchenko D.A., Tabakov V.Yu., et al. Dynamic Tissue-Specific Mosaicism of a ring chromosome 13. Medicinskaya genetika 2022; 21(11): 56–58. (in Russ.) DOI: 10.25557/2073–7998.2022.11.56–58

13. Minasi L.B., Pinto I.P., de Almeida J.G., de Melo A.V., Cunha D.M., Ribeiro C.L., et al. Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches. Genet Mol Res 2015; 14(1): 1692–1699. DOI: 10.4238/2015.March.6.15

14. Zamanian M., Sadjadi H., Tahsili M., Borjian Boroujeni P., Almadani N. Mosaic ring chromosome 13 presented with isolated male infertility: case report. Int J Fertil Steril 2023; 17(3): 215–217. DOI: 10.22074/IJFS.2022.548793.1262

15. Belyaeva E.O., Kashevarova A.A., Nikonov A.M., Plotnikova O.V., Skryabin N.A., Nazarenko L.P., et al. Significance of molecular karyotyping for diagnosis specification in case of cytogenetically detected chromosomal aberrations. Medicinskaya genetika 2016; 15(7): 17–20. (in Russ.) DOI: 10.1234/×-×-2016–7–17–20

16. Oparina N.V., Solovova O.A., Kalinenkova S.G., Latypov A.Sh., Bliznets E.A., Stepanova A.A., et al. Family case of mosaic variant of Turner syndrome with ring X chromosome. Medicinskaya genetika 2019; 18(11): 36– 45. (in Russ.) DOI: 10.25557/2073–7998.2019.11.36–45

17. Beresheva A.K., Yurov I.Yu., Koloty A.D., Novikova I.M., Yurov Yu.B., Vorsanova S.G. Mosaic form of Shereshevsky-Turner syndrome with a ring x chromosome in an 8-year-old girl: application of molecular cytogenetic diagnostic methods. Ros Vestn Perinatol i Pediatr 2011; 56(5): 30–37. (in Russ.)