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Short report: Twins with 20p13 duplication. Case report and comprehensive literature review.

Molecular genetics & genomic medicine - 1 May 2024

Kennedy Benjamin J, Savage Sarah K, Kaler Stephen G

Abstract excerpt

BACKGROUND: Trisomy 20p is a rare genetic condition caused by a duplication of the short arm of chromosome 20. METHODS: We employed clinical observation and molecular genetic testing (SNP microarray), to study identical twin males with an unknown dysmorphic syndrome. We conducted a literature review of trisomy 20p and collated the clinical and molecular genetic findings on 20 affected subjects reported since...

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Identifiers

PMID: 38738460
DOI: 10.1002/mgg3.2436
PMCID: PMC11089493

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