Work

Turner syndrome and 45,X/47,XXX mosaicism.

Year: 2009

Type: article

Abstract: The occurrence of double aneuploidy is a relatively rare phenomenon. We report on a 17-year-old woman with short stature, minimal pubic and axillar hair and short hands. In cultured lymphocyte a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for X chromosome and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. To our knowledge, this is the first case of mosaic 45,X/47,XXX in Turkey.

Source: PubMed

Authors: E Akbas, H Mutluhan, K Savasoglu, F Soylemez, I Ozturk, G Yazici

Institution: Mersin Üniversitesi

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: green

OpenAlex ID: W25067133

FWCI: 0.899

Cites:

Cited by: 12

Related to: 10