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

Published: 2024-09-23
Abstract Views: 23
DOI: https://doi.org/10.52724/tcnk.v17i4.356
Issue
Vol. 17 No. 4 (2024)
Section
Case report

BÁO CÁO CA BỆNH: BẤT THƯỜNG NHIỄM SẮC THỂ X HIẾM GẶP DẠNG ISODICENTRIC TRÊN BỆNH NHÂN MẮC HỘI CHỨNG TURNER

Dương Thị Thu Thủy, An Thùy Lan, Hoàng Thị Thanh Mộc, Trần Thị Nga, Trần Thị Nga, Đinh Thị Hồng Nhung, Lê Thị Liễu, Ngô Thị Bích Ngọc, Nguyễn Xuân Huy, Trần Thị Huyền, Hoàng Tiến Chung, Phạm Quốc Tuấn, Nguyễn Ngọc Dũng, Nguyễn Thị Phương Mai, Ngô Diễm Ngọc

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

Abstract

Turner syndrome is the most common sex-chromosome abnormality in females. The syndrome is caused by either a complete or a partial loss of an X-chromosome. Approximately 50% of the Turner patients have a karyotype of 45,X, while the remaining varies in 45,X mosaicism with different cell lines, including aneuploidy (46,XX; 47,XXX; 48,XXXX) and structural anomalies such as isochromosome X (i(X)(q10), or even rare structural aberrant on sex chromosomes. We present a case of a 12-year-old female affected by slow growth, delayed puberty and X-ray bone age exam shows the patient’s biological age is 8. Chromosomal analysis detects that the patient has a mosaic structural abnormality of X-chromosome: a monosomy X cell line and the other cell line contains an isodicentric X. The interpretation: mos 45X[27]/46X,idic(X)(pter-q26::q26-pter)[3].

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

Keywords

Hội chứng Turner, bất thường cấu trúc nhiễm sắc thể X, isodicentric X, Turner syndrome, X-chromosome structural abnormalities

References

1. Cameron- Pimblett A, La Rosa C, King TFJ, Davies MC, Conway GS. The Turner syndrome life course project: Karyotype-phenotype analyses across the lifespan. Clin Endocrinol (Oxf). 2017;87(5):532-538. doi:10.1111/cen.13394
2. Sybert VP, McCauley E. Turner’s Syndrome. N Engl J Med. 2004;351(12):1227-1238. doi:10.1056/NEJMra030360
3. TURNER HH. A SYNDROME OF INFANTILISM, CONGENITAL WEBBED NECK, AND CUBITUS VALGUS1. Endocrinology. 1938;23(5):566-574. doi:10.1210/endo-23-5-566
4. Moka R, Sreelakshmi K, Gopinath PM, Satyamoorthy K. Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome. J Hum Reprod Sci. 2013;6(2):129-132. doi:10.4103/0974-1208.117177
5. Lippe B. Turner Syndrome. Endocrinol Metab Clin North Am. 1991;20(1):121-152. doi:10.1016/S0889-8529(18)30284-6
6. Tarani L, Lampariello S, Raguso G, et al. Pregnancy in patients with Turner’s syndrome: six new cases and review of literature. Gynecol Endocrinol Off J Int Soc Gynecol Endocrinol. 1998;12(2):83-87. doi:10.3109/09513599809024955
7. Calvano S, de Cillis GP, Croce AI, Perla G, Notarangelo A, Zelante L. A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea. Ann Genet. 2002;45(3):137-140. doi:10.1016/s0003-3995(02)01121-8
8. Gardner RJM, Gardner RJM, Amor DJ. Gardner and Sutherland’s Chromosome Abnormalities and Genetic Counseling. Oxford University Press; 2018.
9. James RS, Coppin B, Dalton P, et al. A study of females with deletions of the short arm of the X chromosome. Hum Genet. 1998;102(5):507-516. doi:10.1007/s004390050733
10. Yu TY, Lin HS, Chen PL, Huang TS. An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner’s syndrome. A case report. J Formos Med Assoc. 2015;114(1):77-80. doi:10.1016/j.jfma.2011.05.011
11. Trunca C, Therman E, Rosenwaks Z. The phenotypic effects of small, distal Xq deletions. Hum Genet. 1984;68(1):87-89. doi:10.1007/BF00293879