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Article

Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome.

American journal of medical genetics. Part A - 1 Mar 2014

Vargiami Euthymia, Ververi Athina, Kyriazi Maria, Papathanasiou Evangelia, Gioula Georgia, Gerou Spyridon, Al-Mutawa Hamda, Kambouris Marios, Zafeiriou Dimitrios I

Abstract excerpt

Submicroscopic deletion of 10p15.3 is a rare genetic disorder, currently reported in 21 unrelated patients. It is mainly associated with cognitive deficits, speech disorders, motor delay and hypotonia. The size of the deleted region ranges between 0.15 and 4 Mb and does not generally correlate with phenotype. A monozygotic female twin pair with a de novo 2.7 Mb deletion of 10p15.3 is herein reported. The girls...

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Identifiers

PMID: 24357427
DOI: 10.1002/ajmg.a.36329

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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