Article
Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication.
Genes - 16 Oct 2021
Libotte Francesco, Fabiani Marco, Margiotti Katia, Viola Antonella, Mesoraca Alvaro, Giorlandino Claudio
Abstract excerpt
The 4q deletion syndrome is a well-known rare genetic condition caused by partial, terminal, or interstitial deletion in the long arm (q) of chromosome 4. The phenotype of this syndrome shows a broad spectrum of clinical manifestations due to the great variability in the size and location of the deletion. In the literature, the mostly terminal deletions of chromosome 4q and the relative phenotypes are described,...
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