Generate QR code
Open Access
Subscription Access
The case of a rare chromosomal disease in a newborn child
https://doi.org/10.17021/1992-6499-2024-2-126-130
Abstract
Triploidy is a rare lethal chromosomal anomaly characterized by the presence of an additional set of chromosomes in the cell. The presented clinical observation demonstrates a rare case of the birth of a child with a complete form of triploidy. The features of the clinic, the data of laboratory and instrumental research methods, as well as the methods of treatment used are described. The baby was born prematurely with signs of intrauterine hypotrophy, respiratory failure and multiple stigmas of dysembriogenesis. In dynamics, the child's condition was aggravated by the development of sepsis, which subsequently led to a fatal outcome.
Supporting agencies: The authors declare that there is no external funding for the exploration and analysis work.
About the Authors
N. R. Pimenova
Astrakhan State Medical University
Russian Federation
Russian Federation
Nailya R. Pimenova, Cand. Sci. (Med.), Associate Professor of the Department
Astrakhan
O. V. Lebedeva
Astrakhan State Medical University; Clinical Maternity Hospital named after Yu.A. Paskhalova
Russian Federation
Russian Federation
Oksana V. Lebedeva, Dr. Sci. (Med.), Associate Professor of the Department; Deputy Chief Physician
Astrakhan
A. A. Batyrova
Regional Perinatal Center of the Alexander-Mariinsky Hospital
Russian Federation
Russian Federation
Altynay A. Batyrova, Dr. Sci. (Med.), Associate Professor of the Department
Astrakhan
S. I. Azhkamalov
Astrakhan State Medical University
Russian Federation
Russian Federation
Stanislav I. Azhkamalov. Cand. Sci. (Med.), Assistant of the Department
Astrakhan
References
1. Kolarski М., Ahmetovic В., Beres М., Topic R., Nikic V., Kavecan I., Sabic S. Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy. Medical Archives. 2007; 71 (2): 144–147. doi: 10.5455/medarh.2017.71.144-147.
2. Lazyuk G. I. Human Teratology. Moscow: Meditsina; 1991. 479 p. (In Russ.).
3. Wick J. B., Johnson K. J., O'Brien J., Wick M. J. Second-trimester diagnosis of triploidy: A series of four cases. American Journal of Perinatology Reports. 2013; 3 (1): 37–40. doi: 10.1055/s-0032-1331378.
4. Cingiloglu P., Yeung T., Sekar R. Twin pregnancy with triploidy and co-existing live twin progressing to viability: Case study and literature review. Obstetrics and Gynecology International Journal. 2018; 9 (4): 247–249. doi: 10.15406/ogij.2018.09.00341.
5. Holman J. L., McGowan M. E. B. Multiple Fetal Anomalies: A Case of Complete Triploidy. Journal of Neonatology and Clinical Pediatrics. 2020; 7 (1): 1–3. doi: 10.24966/NCP-878X/100045.
6. Egorskaya E. T. Clinical case of triploidy in a young child. Genetika v sisteme meditsinskikh nauk = Genetics in the System of Medical Sciences. Nizhny Novgorod: Volga Region Research Medical University; 2021: 278–286. (In Russ.).
7. Speicher M. R., Motulsky A. G., Antonarakis S. E. Vogel and Motulsky's Human Genetics. Heidelberg: Springer; 2009. 981 p. doi: 10.1007/978-3-540-37654-5.
8. Vogel F., Motulsky A. G. Human Genetics. Heidelberg: Springer; 1997. 851 p. doi: 10.1007/978-3-662-03356-2.
9. Khlevnaya L. A., Mazurik N. V., Mitusova L. I., Morgunova R. V. Triploidy syndrome as a special case of genomic imprinting diseases. Prenatal'naya diagnostika = Prenatal diagnosis. 2015; 14 (2): 148–156. (In Russ.).
10. Toufaily M. H., Roberts D. J., Westgate M. N., Holmes L. B. Triploidy: Variation of Phenotype. American Journal of Clinical Pathology. 2016; 145 (1): 86–95. doi: 10.1093/ajcp/aqv012.
11. Kudryavtseva E. V., Kovalev V. V., Baranov I. I., Kanivets I. V., Kievskaya Yu. K., Korostelev S. A., Potapov N. N. The role of chromosomal aberrations of the embryo in the genesis of habitual and sporadic miscarriage. Voprosy ginekologii, akusherstva i perinatologii = Questions of Gynecology, Obstetrics and Perinatology. 2021; 20 (1): 34–39. doi: 10.20953/1726-1678-2021-1-34-39. (In Russ.).
12. Shilova N. D. Improving approaches to the diagnosis of chromosomal abnormalities in the framework of personalized medicine. Dissertation of the Dr. Sci. (Med.). Moscow; 2016: 291 p. (In Russ.).
13. Prokof'eva A. D., Vasil'kova I. V., Lyazina L. V. Triploidy: a clinician's view. Meditsinskaya genetika = Medical Genetics. 2015; 14 (11): 29–35. doi: 10.1234/XXXX-XXXX-2015-11-29-35. (In Russ.).
14. Egorskaya E. T. Clinical manifestations and genetic mechanisms of triploidy development. Genetika v sisteme meditsinskikh nauk = Genetics in the System of Medical Sciences. Nizhny Novgorod: Volga Region Research Medical University; 2021: 107–109. (In Russ.).
Review
For citations:
Pimenova N.R., Lebedeva O.V., Batyrova A.A., Azhkamalov S.I. The case of a rare chromosomal disease in a newborn child. Astrakhan medical journal. 2024;19(2):126-130. (In Russ.) https://doi.org/10.17021/1992-6499-2024-2-126-130
Views:
721
Email this article 