45,X/47,X, i(X)(q10),i(X)(q10)/46,X, i(X)(q10) Isochromosome Xq in Mosaic Turner syndrome

Turner Syndrome occurs in one out of every 5000 live female births and the diagnosis is usually based on the clinical presentation. 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). Detailed clinical evaluations of these patients are presented.

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Rare Types of Turner Syndrome: Clinical Presentation and Cytogenetics in Five Cases

Akbaş

Altintas

Çelik

et al. 2012

Lab Med

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Double isochromosome X, A rare cytogenetic variant of turner syndrome: A case report and a review of the literature

Zerrouki

Babakhouya

Tajir

2022

Balkan Journal of Medical Genetics

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Turner Syndrome (TS) is a genetic disorder caused by total or partial loss of an X chromosome. The isochromosome X (i(X)) is a known variant of TS, however, double i(X) is a very rare variant, reported very few times in the literature. We report on a rare case of TS with double i(X). This is an 11-year-old female patient , addressed to the medical genetics consultation for short stature and facial features suggestive of TS. We performed a constitutional postnatal karyotype from a peripheral blood sample, with lymphocyte culture, and an R band analysis, performed on 70 metaphases. Metaphases analysis in our patient identified the presence of three cell populations: 45,X[22]/46,X,i(X)(q10)[30]/47,X,i(X)(q10),i(X)(q10) [18]. The first has total chromosome X monosomy, the second with a normal X chromosome and one isochromosome of the long arm of the other X chromosome and the third with a normal X chromosome and two isochromosomes of the long arm of the X chromosome. A control cell culture was performed from a second blood sample of the patient and confirmed the abnormality. This paper will discuss this case in comparison with other rare cases described, as well as the formation of the double isochromosome, based on the literature.

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45,X/47,X, i(X)(q10),i(X)(q10)/46,X, i(X)(q10) Isochromosome Xq in Mosaic Turner syndrome

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Rare Types of Turner Syndrome: Clinical Presentation and Cytogenetics in Five Cases

Rare Types of Turner Syndrome: Clinical Presentation and Cytogenetics in Five Cases

Double isochromosome X, A rare cytogenetic variant of turner syndrome: A case report and a review of the literature

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