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17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

Brain & development - 1 Aug 2016

Bernardo Pia, Madia Francesca, Santulli Lia, Del Gaudio Luigi, Caccavale Carmela, Zara Federico, Traverso Monica, Cirillo Mario, Striano Salvatore, Coppola Antonietta

Abstract excerpt

The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome, also known as Koolen-de Vries syndrome, was first described in 2006 in individuals with intellectual disabilities and organ abnormalities. We report the clinical,...

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PMID: 26897099
DOI: 10.1016/j.braindev.2016.02.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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