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Article

Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature.

American journal of medical genetics. Part A - 1 Apr 2012

Laus Ana C, Baratela Wagner A R, Laureano Lucimar A F, Santos Silvio A, Huber Jair, Ramos Ester S, Rebelo Camila C, Squire Jeremy A, Martelli Lucia

Abstract excerpt

Trisomy 16q is a clinically recognizable entity presenting with a wide spectrum of abnormalities. Only five infants with a diagnosis of partial trisomy 16q13 → qter have been previously reported, and all died during the first year of life. We report the clinical and molecular cytogenetic findings in a patient with trisomy 16q13 → qter due to the presence of a supernumerary marker chromosome (SMC). The child...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 22354628
DOI: 10.1002/ajmg.a.32988

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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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