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Article

A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay.

Journal of applied genetics - 1 Aug 2011

Lugli Licia, Malacarne Michela, Cavani Simona, Pierluigi Mauro, Ferrari Fabrizio, Percesepe Antonio

Abstract excerpt

The interstitial duplication of the long arm of chromosome 19 is a rare abnormality, characterized by developmental delay and dysmorphic features, also reported in association with cardiac, urinary, and CNS malformations. We describe a new case of de novo 19q12-q13.2 duplication characterized by fluorescent in situ hybridization (FISH) and array comparative genomic hybridization (CGH) and, by reviewing the data...

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Share to Central Nervous System
Share to Chromosomes, Human, Pair 19

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21369844
DOI: 10.1007/s13353-011-0033-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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