Ann Pediatr Endocrinol Metab.  2023 Dec;28(Suppl 1):S14-S16. 10.6065/apem.2244122.061.

Turner syndrome due to Xp22.33 deletion combined with 7p22.3 duplication

Affiliations
  • 1Department of Pediatrics, Pusan National University Hospital, Busan, Korea


Figure

  • Fig. 1. The patient's karyogram revealed 46,X,der(X)t(X;7)(p11.23;p11.2)(arrow).

  • Fig. 2. A chromosomal microarray analysis showed 7p22.3-q11.21 duplication and p22.33-p11.3 deletion.


Reference

References

1. Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017; 177:G1–70.
Article
2. D'Ambrosio F, Chan JT, Aslam H, Aguirre Castaneda R, De Simone L, Shad Z. Turner syndrome due to Xp22. 33 deletion with preserved gonadal function: case report. Oxf Med Case Reports. 2019; 2019:omz028.
3. Cho SY, Ki CS, Jang JH, Sohn YB, Park SW, Kim SH, et al. Familial Xp22. 33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature. Am J Med Genet A. 2012; 158A:1462–6.
4. Lachlan KL, Youings S, Costa T, Jacobs PA, Thomas NS. A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions. Hum Genet. 2006; 118:640–51.
Article
5. De Leon FD, Hersh JH, Sanfilippo JS, Schikler KN, Yen FF. Gonadal and mullerian duct agenesis in a girl with 46,X,i(Xq). Obstet Gynecol. 1984; 63(3 Suppl):81S–83S.
6. Vaddadi S, Murthy RS, Rahul CH, Kumar VL. A rare case of Turner's syndrome presenting with Mullerian agenesis. J Hum Reprod Sci. 2013; 6:277–9.
Article
7. Akierman SV, Skappak CD, Girgis R, Ho J. Turner Syndrome and apparent absent uterus: a case report and review of the literature. J Pediatr Endocrinol Metab. 2013; 26:587–9.
Article
8. Milunsky JM, Wyandt HE, Milunsky A. Emerging phenotype of duplication (7p): a report of three cases and review of the literature. Am J Med Genet. 1989; 33:364–8.
Article
9. Prakash S, Guo D, Maslen CL, Silberbach M, Milewicz D, Bondy CA, et al. Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. Genet Med. 2014; 16:53–9.
Article
10. Burdick KJ, Cogan JD, Rives LC, Robertson AK, Koziura ME, Brokamp E, et al. Limitations of exome sequencing in detecting rare and undiagnosed diseases. Am J Med Genet A. 2020; 182:1400–6.
Article
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