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Article

De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration.

Clinical genetics - 1 Aug 1996

Kotzot D, Krüger C, Braun-Quentin C

Abstract excerpt

We report on a case of de novo direct duplication for the distal part of chromosome 3p: 46,XY,dir dup (3) (p25-->pter). At the age of 4 years and 7 months, the boy presented with moderate growth and mental retardation, muscular hypotonia, hypoplasia of the left kidney, a short neck, and a square-shaped face characterized by a broad and flat nasal bridge, slight epicanthus, and full cheeks. So far, only a few...

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Source

Identifiers

PMID: 8937769
DOI: 10.1111/j.1399-0004.1996.tb02356.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration.PMID 8937769Read ↗

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