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Article

"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.

American journal of medical genetics. Part A - 1 Nov 2009

Grossmann Vera, Müller Doris, Müller Wilfried, Fresser Friedrich, Erdel Martin, Janecke Andreas R, Zschocke Johannes, Utermann Gerd, Kotzot Dieter

Abstract excerpt

Partial duplication 3q is a well defined clinical entity characterized by growth retardation, cryptorchism, microcephaly, and characteristic dysmorphisms. Most patients present with large duplications or are associated with a second chromosomal imbalance, which makes the definition of the phenotype difficult. Here, we report on a 4-year and 8-month-old girl with pre- and postnatal measurements in the high normal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19842202
DOI: 10.1002/ajmg.a.33058

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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