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Article

De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.

Gene - 25 Jul 2013

Bartolini Luca, Sartori Stefano, Lenzini Elisabetta, Rigon Chiara, Cainelli Elisa, Agrati Cristina, Toldo Irene, Donà Marta, Trevisson Eva

Abstract excerpt

We report on a boy with speech delay, mental retardation, motor clumsiness, hyperactivity, dysmorphic facial features, brachytelephalangy and short stature. Electrocardiogram, echocardiography, renal ultrasound, electroencephalogram, fundoscopic exam and auditory brainstem responses were all normal. Brain magnetic resonance imaging showed a left temporal arachnoid cyst and a small pineal gland cyst. High...

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Identifiers

PMID: 23612255
DOI: 10.1016/j.gene.2013.04.033

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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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