IMR Press / CEOG / Volume 47 / Issue 1 / DOI: 10.31083/j.ceog.2020.01.4982
Open Access Case Report
A rare of Turner syndrome with a special karyotype: a case report
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1 Reproductive Medicine Center, XinJiang JiaYin Hospital, Urumchi, China
2 State Key Laboratory for Conservation and Utilization of Bio-resource in Yunnan, Yunnan University, Kunming, China
3 Basecare Medical Device Co., Ltd., Suzhou, China
*Correspondence: (W.D. HUANG)
Clin. Exp. Obstet. Gynecol. 2020, 47(1), 129–131;
Published: 15 February 2020
Copyright: © 2020 Huang et al. Published by IMR press.
This is an open access article under the CC BY-NC 4.0 license

Turner syndrome (TS) is a gonadal dysgenesis caused by absence or structural abnormalities of sex chromosome. Isochromosome Mosaic TS is a structurally abnormal X chromosome consisting of either two short or two long arms, with only an 8-9% prevalence among women with TS based on international studies. The present report describes a 30-year-old female with isochromosome mosaic karyotype TS. The patient had no menarche so far. G-banding chromosome analysis indicated mosaic 45, X[3]/46, X, i(X) (q10)[79]/47, X, i(X)(q10), i(X)(q10), i(X)(q10)[3]/49, X, i(X)(q10), i(X)(q10), i(X)(q10), i(X)(q10)[79]. Both clinical and cytogenetic investigations proved this patient to be a special isochromosome Xq Mosaic TS with autoimmune hypothyroidism and hyperlipidemia.

Primary amenorrhea
Turner Syndrome
Mosaic Isochromosome Xq
Autoimmune hypothyroidism
Figure 1.
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