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Article

Nonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature.

American journal of medical genetics. Part A - 1 May 2025

Ginter Jacob A, Beaudry Sarah, Guseva Natalya, Nagy Jaime, Stence Aaron A, Sidhu Alpa

Abstract excerpt

Triplications involving 5q21.3q23.3 are rare, and a phenotype has not been established. Here, we present a 4-month-old male with dysmorphic facial features and congenital cardiac malformation. Chromosomal microarray identified a pathogenic triplication of 5q21.3q23.3 with chromosome analysis showing the extra 5q material inserted into 16q. Optical genome mapping (OGM) was performed to further characterize the...

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Identifiers

PMID: 39713812
DOI: 10.1002/ajmg.a.63969

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