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Article

Karyotype and phenotype association in Turner syndrome with non-mosaic X chromosome structural rearrangements: Systematic review.

Congenital anomalies - 1 Jan 2000

Tanoshima Miki, Tanoshima Reo, Takase Hajime, Yamamoto Daisuke, Aoki Shigeru, Sakakibara Hideya, Miyagi Etsuko

Abstract excerpt

Turner syndrome is a chromosomal disorder, characterized by the partial or total deletion of one X chromosome, resulting in various karyotypes that presumably lead to different phenotypes. However, most studies find it difficult to predict phenotypes from karyotypes due to the presence of mosaicism. The purpose of this study is to clarify the relationship between karyotype and phenotype in Turner syndrome with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39743222
DOI: 10.1111/cga.70002

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