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A Rare Variant of Turner Syndrome Induced by the Translocation of the Short Arm of Chromosome 7 on Chromosome X: A Case Report with a Review of the Literature

Year: 2025

Type: article

Abstract: Turner syndrome is well defined as a sex chromosomal disorder that occurs when one of the two X chromosomes is missing or incomplete. The typical clinical features of Turner syndrome have been well defined, and some lesions of the Turner-associated phenotype have been identified. We herein report a case of Turner syndrome caused by a rare karyotype with translocation of the short arm of chromosome 7 to the X chromosome. The information obtained in this case will be useful for evaluating Turner syndrome in the future.

Source: Internal Medicine

DOI: 10.2169/internalmedicine.6137-25

Authors: Ayaka Harada, Takatoshi Anno, Yukiko Kimura, Kohei Kaku, Hideaki Kaneto

Institutions: Kawasaki Medical School, Kurashiki Central Hospital

Language: English

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: diamond

OpenAlex ID: W4417209195

FWCI:

Cites: 26

Cited by:

Related to: 10