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Article

Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.

American journal of medical genetics. Part A - 1 Mar 2016

Fontes Marshall I B, Santos Ana P, Molck Miriam C, Simioni Milena, Nascimento Diogo L L, Andrade Ana K M, Rosenberg Carla, Krepischi Ana C V, Appenzeller Simone, Monlleó Isabella L, Gil-da-Silva-Lopes Vera Lúcia

Abstract excerpt

This article reports a patient with a de novo ∼ 9.32 Mb duplication at 16p13.3 and a ∼ 71 Kb deletion at 22q13.33. The patient was followed from 1 month old to 3 years and 8 months of age and presented typical features of the 16p13.3 duplication syndrome. In addition, the patient presents a portal cavernoma, an alteration rarely reported in this condition. Renal agenesis was detected as additional developmental...

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PMID: 26638882
DOI: 10.1002/ajmg.a.37494

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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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