##plugins.themes.vojs.article.sidebar##

PDF (Tiếng Việt)
Published: 2025-08-22
Abstract Views: 19
Views PDF (Tiếng Việt): 4
Issue
Vol. 18 No. 2 (2025)
Section
Research

PHENOTYPIC AND CYTOGENETIC FEATURES OF TETRASOMY 18P SYNDROME: CASE REPORT

Tien Chung Hoang1, Thuy Lan An1, Thi Lieu Le1, Thi Hong Nhung Dinh1, Thi Thanh Moc Hoang1, Thi Nga Tran1, Thi Bich Ngoc Ngo1, Xuan Huy Nguyen1, Thi Huyen Tran1, Thi Thu Thuy Duong1, Quoc Tuan Pham1, Diem Ngoc Ngo1
1 Vietnam National Children’s Hospital

##plugins.themes.vojs.article.main##

Abstract

Tetrasomy 18p syndrome is an extremely rare chromosomal disorder, characterized by intellectual disability, microcephaly, altered muscle tone, and multiple congenital anomalies. The condition results from the presence of an additional isochromosome 18p in the karyotype. Most cases of Tetrasomy 18p syndrome arise from de novo chromosomal mutations. In this study, we report a case of a 4-month-old male patient diagnosed with Tetrasomy 18p syndrome through genetic testing performed at the Department of Human Genetics, Viet Nam National Children’s Hospital. The patient had a karyotype of 47,XY,+i(18) (p10), indicating a de novo mutation.

##plugins.themes.vojs.article.details##

Keywords

Tetrasomy 18p syndrome, isochromosome 18p

References

1. Plaiasu V, Ochiana D, Motei G et al. A rare chromosomal disorder - isochromosome 18p syndrome. Maedica (Bucur) 2011;6(2):132-136.
2. Jung PS, Won HS, Cho IJ et al. A case report of prenatally diagnosed tetrasomy 18p. Obstet Gynecol Sci 2013 ;56(3):190-193. https://doi.org/10.5468/ogs.2013.56.3.190
3. Boyle J, Sangha K, Dill F et al. Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters. Am J Med Genet 2001;101(1):65-69. https://doi.org/10.1002/ajmg.1295
4. Peng C, LinFeng S, Bu X et al. Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report. Mol Cytogenet 2022;15(1):25.https://doi.org/10.1186/s13039-022-00602-4
5. Takeda K, Okamura T, Hasegawa T. Sibs with tetrasomy 18p born to a mother with trisomy 18p. J Med Genet 1989;26(3):195-197.
6. Taylor KM, Wolfinger HL, Brown MG et al. Origin of a small metacentric chromosome: familial and cytogenic evidence. Clin Genet 1975;8(5):364-369.https://doi.org/10.1111/j.1399-0004.1975.tb01515.x
7. Sebold C, Roeder E, Zimmerman M et al. Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am J Med Genet A 2010; 152A(9):2164-72. https://doi.org/10.1002/ajmg.a.33597
8. Kotzot D, Bundscherer G, Bernasconi F et al. Isochromosome 18p results from maternal meiosis II nondisjunction. Eur J Hum Genet 1996;4(3):168-174. https://doi.org/10.1159/000472191
9. NCBI Genome Data Viewer - Chromosome 18.
10. Bugge M, Blennow E, Friedrich U et al. Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation. European Journal of Human Genetics 1996;4:160-167.
11. Abeliovich D, Dagan J, Levy A et al. Isochromosome 18p in a mother and her child. Am J Med Genet 1993;46(4):392-393. https://doi.org/10.1002/ajmg.1320460409