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4q27 deletion and 7q36.1 microduplication in a patient with multiple malformations and hearing loss: a case report

3 Mar 2020

Abstract excerpt

BACKGROUND: Chromosome deletions of the long arm of chromosome 4 in 4q syndrome are characterized by mild facial and digital dysmorphism, developmental delay, growth retardation, and skeletal and cardiac anomalies, which is regarded as an autism spectrum disorder. Moreover, some scarce reports indicate that patients with 4q interstitial deletion and 7p duplication may present symptoms associated with hearing...

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PMID: 32126996
DOI: 10.1186/s12920-020-0697-y

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