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Article

Trisomy 5p: Long Recognized, Rarely Published- Three New Cases and Review of the Literature.

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

Kim Gabriela J, Lee Kristen N, Pritchard Amanda B

Abstract excerpt

Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections. Given the rarity of this disorder, information regarding its presentation comes...

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Identifiers

PMID: 40767403
DOI: 10.1002/ajmg.a.64198

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