Article
Multiple Aneuploidy: First Report of a Patient Presenting with a Karyotype 45,X/48,XXX,+21.
Cytogenetic and genome research - 1 Jan 2024
Costa Gabriela Roldão Correia, Jorente Josep, Pontes Larissa Bretanha, Viguetti Campos Nilma Lúcia, Marques-de-Faria Antonia Paula, Vieira Társis Paiva, Steiner Carlos Eduardo
Abstract excerpt
INTRODUCTION: The dual diagnosis of Down syndrome and Turner syndrome in the same patient was clinically identified in the early 1950s before the development of karyotyping techniques. After that, several authors reported anecdotal patients and/or reviewed series of Down-Turner double aneuploidies due to a regular 46,X,+21 constitution or different combinations of abnormal cell lines. In such cases, the most...
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