Clinical description and genetic nature of Patau syndrome (trisomy 13). Literature review
Chromosomal disorders are severe congenital pathologies caused by abnormalities in the structure or number of chromosomes. They are characterized by complex defects in mental and physical development. The key manifestation is intellectual disability, often complicated by hearing, vision, and musculoskeletal disorders, as well as severe speech and behavioral disorders. Most embryos with such disorders are not viable and die in early pregnancy, but in some cases, children are born, and these syndromes have clearly visible external features. Scientific research shows that the majority of chromosomal pathologies are caused by numerical changes in chromosomes. Patau syndrome (trisomy 13) is a common trisomy, characterized by low birth weight, brain abnormalities, characteristic facial features (microcephaly, narrow palpebral fissures, auricular deformities, cleft lip and palate), as well as heart defects and internal organ abnormalities. This article presents a systematic and in-depth overview of Patau syndrome. It examines the possible causes of congenital anomalies and provides a detailed analysis of cytogenetic variants, clinical symptoms, and diagnostic methods for this trisomy. This review is based on a literature search of PUBMED, ScienceDirect, and eLIBRARY.RU.Antonova A.A., Yamanova G.A., Belyakova I.S., Tarasochkina D.S.
Keywords
congenital malformations
Patau syndrome
abnormal human systemic constitution
trisomy 13
chromosomal mutations
About the Authors
Alena A. Antonova, Cand. Sci. (Med.), Associate Professor, Department of Hospital Pediatrics and Neonatology, Astrakhan State Medical University, Astrakhan, Russia; fduecn-2010@mail.ru, ORCID: https://orcid.org/0000-0003-2581-0408 (corresponding author)Galina A. Yamanova, Assistant, Department of Normal Physiology, Astrakhan State Medical University, Astrakhan, Russia; galina_262@mail.ru, ORCID: https://orcid.org/0000-0003-2362-8979
Irina S. Belyakova, Cand. Sci. (Med.), Assistant, Department of Internal Medicine, Faculty of Pediatrics, Astrakhan State Medical University, Astrakhan, Russia; irinka150911@rambler.ru, ORCID: https://orcid.org/0000-0002-1328-1628
Daria S. Tarasochkina, Cand. Sci. (Med.), Associate Professor, Department of Normal Physiology, Astrakhan State Medical University, Astrakhan, Russia; mitrohina_dariya@mail.ru, ORCID: https://orcid.org/0000-0002-0804-8944
