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).
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8375010 | PMC |
| http://dx.doi.org/10.7759/cureus.16500 | DOI Listing |
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