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Article

Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.

Journal of genetics - 1 Jan 2021

Tassano Elisa, Uccella Sara, Severino Mariasavina, Giacomini Thea, Nardi Francesca, Gimelli Giorgio, Tavella Elisa, Ronchetto Patrizia, Malacarne Michela, Coviello Domenico

Abstract excerpt

Interstitial 6p25.1p24.3 microdeletions are rare events and a clear karyotype/phenotype correlation has not yet been determined. In this study, we present the clinical and molecular description of a child with a de novo 6p25.1p24.3 microdeletion, characterized by array-CGH, associated with mild intellectual disability, facial dysmorphisms, hypopigmentation of the skin of the abdomen, heart defects, mild pontine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33707360

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