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A Rare Combination of Chromosomal Abnormalities in an Infant With Turner Syndrome and Hypoplastic Left Heart Syndrome.


ABSTRACT: Hypoplastic left heart syndrome (HLHS) is a fatal congenital complex heart defect where the heart's 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).

SUBMITTER: Huseynova R 

PROVIDER: S-EPMC8375010 | biostudies-literature |

REPOSITORIES: biostudies-literature

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