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Article

Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28.

Human genetics - 1 Jun 1991

van Essen A J, Kok K, van den Berg A, de Jong B, Stellink F, Bos A F, Scheffer H, Buys C H

Abstract excerpt

We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of...

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Identifiers

PMID: 2066102
DOI: 10.1007/BF00204171

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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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