We present a patient with 46,X,i(Xq) karyotype and compare the clinical and laboratory findings with the classic description of Turner syndrome. Our patient has normal social and psychomotor skills unlike previously reported cases in the literature.

Among the structural abnormalities, the most common is isochromosome Xq. Females with structural variants of TS can present with delayed menarche, amenorrhea, and infertility rather than classic manifestations of TS. This study describes two rare variants of TS.

Turner syndrome (TS) with an isochromosome mosaic karyotype 45,X/46,X,i (X) (q10) is an unusual variant, with only an 8-9% prevalence among women with TS based on international studies and 15% of all TS in the Philippines. Clinical features are atypical and any case should be investigated to detect potential complications.

These involve a partial deletion of the second X or Y chromosome such as isochromosome Xq (as seen in this case), or a ring X or Y chromosome. These variant karyotypes are often associated with no features, fewer features, or milder features of Turner Syndrome (as seen in this case).

We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t (4;16) (p15.2;p13.1) [9]/46,X,i (X) (q10),t (4;16) (p15.2;p13.1) [91].

It is important not to confuse the 46,X,i (Xq) syndrome with the 45,X classical Turner's syndrome. There are profound cytogenetic and clinical differences between the two syndromes, which must be borne in mind in the differential diagnosis of amenorrhea and of infertility.

Feb 1, 2023 · While all karyotypes share a complete or partial deletion in the short arm of the X chromosome (Xp), the iso Xq is distinct in terms of gene dosage due to trisomy of the genes on the Xq. Individuals with TS are at increased lifetime risk of diabetes mellitus (DM), hypertension, dyslipidemia, and obesity.

In the last 9 years, 17 of 1681 patients who underwent cytogenetic evaluation to investigate uncertain chromosomal anomaly had Turner syndrome. Ten of the patients were the 45,X (classic) type, 2 patients were 46,X,i(Xq), 1 patient was 46,X,der(X)del(X)(p22.1) del(X)(q26), and 4 were mosaic (2 were 45,X/46,XY and the other 2 were 45,X/47,XXX).

Turner syndrome (TS) is the most common sex chromosome abnormality in women, caused by a complete or partial absence of the second sex chromosome. The karyotype 46, X,i (Xq) is the underlying cause in about 10% of the cases of TS. Hepatic abnormalities are frequent in TS.

Download scientific diagram | Karyotype of the first case showing 46X,iso (Xq). from publication: Turner Syndrome With Isochromosome Structural Abnormalities: A Case Report | Turner syndrome...