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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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