Authors :
Ida Divya Sherly E.; Dr. Sheeba Chellappan; Bruelin Melshia M.; Aslin Johnsi. L.; Kavitha S.; Rajeshwari. G.
Volume/Issue :
Volume 11 - 2026, Issue 1 - January
Google Scholar :
https://tinyurl.com/yc88uzw6
Scribd :
https://tinyurl.com/3nnkyfcx
DOI :
https://doi.org/10.38124/ijisrt/26jan116
Note : A published paper may take 4-5 working days from the publication date to appear in PlumX Metrics, Semantic Scholar, and ResearchGate.
Abstract :
Patau syndrome, also known as Trisomy 13, is a rare chromosomal disorder caused by the presence of an additional
copy of chromosome 13, resulting in multiple congenital anomalies and severe neurodevelopmental impairment. The
condition arises due to meiotic nondisjunction, mosaicism, or chromosomal translocation, with full trisomy being the most
common form. The prognosis is extremely poor, as the majority of affected infants do not survive beyond the first year of
life due to severe systemic complications. Diagnosis is typically established prenatally through ultrasonography and
confirmed by cytogenetic analysis using procedures such as amniocentesis or chorionic villus sampling. Management is
primarily supportive and focuses on symptom relief, family counselling, and palliative care. Understanding the clinical
features, diagnosis, and outcomes of Patau syndrome is essential for healthcare professionals to provide appropriate care
and informed decision-making support to affected families.
Keywords :
Patau Syndrome, Trisomy 13.
References :
- Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, editors. Nelson textbook of pediatrics. 21st ed. Philadelphia: Elsevier; 2020.
- Sadler TW. Langman’s medical embryology. 14th ed. Philadelphia: Wolters Kluwer; 2023.
- Turnpenny PD, Ellard S. Emery’s elements of medical genetics and genomics. 16th ed. Elsevier; 2021.
- Moore KL, Persaud TVN, Torchia MG. The developing human: clinically oriented embryology. 11th ed. Elsevier; 2020.
- Nussbaum RL, McInnes RR, Willard HF. Thompson & Thompson genetics in medicine. 9th ed. Philadelphia: Elsevier; 2023.
- Carey JC. Trisomy 13 and trisomy 18 syndromes. Orphanet J Rare Dis. 2012; 7:81.
- Jones KL, Jones MC, Del Campo M. Smith’s recognisable patterns of human malformation. 8th ed. Elsevier; 2022.
- World Health Organisation. Congenital anomalies [Internet]. Geneva: World Health Organisation; cited 2026 Jan 4.
Patau syndrome, also known as Trisomy 13, is a rare chromosomal disorder caused by the presence of an additional
copy of chromosome 13, resulting in multiple congenital anomalies and severe neurodevelopmental impairment. The
condition arises due to meiotic nondisjunction, mosaicism, or chromosomal translocation, with full trisomy being the most
common form. The prognosis is extremely poor, as the majority of affected infants do not survive beyond the first year of
life due to severe systemic complications. Diagnosis is typically established prenatally through ultrasonography and
confirmed by cytogenetic analysis using procedures such as amniocentesis or chorionic villus sampling. Management is
primarily supportive and focuses on symptom relief, family counselling, and palliative care. Understanding the clinical
features, diagnosis, and outcomes of Patau syndrome is essential for healthcare professionals to provide appropriate care
and informed decision-making support to affected families.
Keywords :
Patau Syndrome, Trisomy 13.
