Work

Y-Хромосома в пацієнток із клінічним діагнозом синдрому Шерешевського—Тернера: огляд літератури та власне спостереження

Year: 2018

Type: article

Abstract: Turner syndrome (TS) is the most common genetic disorder associated with X chromosome abnormality. Total absence of one of the X chromosomes in all cells occurs in 40—50 % of cases. In 5 % of female patients with TS there is, along with cells without genetic material of X chromosome, a cell line with 46,XY karyotype or only a part of Y chromosome, which might manifest clinically as virilization and mixed gonadal dysgenesis. Early identification of genetic material of Y chromosome in female patients with TS is of great clinical importance due to higher risk of germ cell tumors.Presented in the article are data of researchers’ own monitoring of a girl with TS with rare karyotype containing genetic material of Y chromosome.

Source: The Scientific Issues of Ternopil Volodymyr Hnatiuk National Pedagogical University Series pedagogy

Authors: A. V. Solntsava, Nadzeya Peskavaya, K. I. Shlimakova

Institution: Belarusian State Medical University

Language: Russian

Topic: Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2944132099

FWCI:

Cites: 21

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Related to: 10