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Article

Report of a child with a complete de novo 17p duplication localized to the terminal region of the long arm of chromosome 17.

American journal of medical genetics. Part A - 15 Jun 2007

Paskulin Giorgio A, Zen Paulo R G, Rosa Rafael F M, Manique Rosana C, Cotter Philip D

Abstract excerpt

We report the second case of a child with trisomy of the entire short arm of chromosome 17 secondary to a de novo duplication. Trisomy 17p in this patient resulted from a duplication, localized to the distal region of the long arm of the same chromosome, an abnormality not previously described. This cytogenetic abnormality was confirmed using whole chromosome paint, subtelomeric and Smith-Magenis probes by...

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Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17506105
DOI: 10.1002/ajmg.a.31785

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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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