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 | 2021 Jul

REPOSITORIES: biostudies-literature