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

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

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 mon...

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Veröffentlicht in:Curēus (Palo Alto, CA) CA), 2021-07, Vol.13 (7)
Hauptverfasser: Huseynova, Roya, Bin Mahmoud, Latifa, Alshenqiti, Abduljabbbar, Alomran, Khalid, Alodaidan, Nabeel, Huseynov, Ogtay
Format: Artikel
Sprache:eng
Schlagworte:
Cardiology
Genetics
Pediatrics
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Zusammenfassung: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).
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.16500