A Rare Combination Of Chromosomal Abnormalities In An Infant With Turner Syndrome And Hypoplastic Left Heart Syndrome

Roya Huseynova, Latifa Bin Mahmoud, Abduljabbbar Alshenqiti, Khalid Alomran,Nabeel Alodaidan,Ogtay Huseynov

CUREUS（2021）

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摘要

Hypoplastic left heart syndrome (HLHS) is a fatal congenital complex heart defect where the hearts left side is critically undeveloped. However, its pathogenesis remains unknown. We report a unique case of HLHS because of the rare combination of two abnormalities in the cell lines: partial monosomy X (Turner syndrome) and partial trisomy 14 (14q11.2 microduplication syndrome).

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关键词

hypoplastic left heart syndrome, translocation, neonates, turner syndrome, 14q11.2 microduplication syndrome

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