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Article

Phenotypical variation in cousins with the identical partial trisomy 9 (pter-q22.2) and 7 (q35-qter) at 16 and 23 weeks gestation.

American journal of medical genetics. Part A - 15 Apr 2004

Metzke-Heidemann S, Kuhling-von Kaisenberg H, Caliebe A, Janssen D, Jonat W, Grote W, von Kaisenberg C S

Abstract excerpt

From the study of numerical and structural chromosomal abnormalities, there is convincing evidence and accumulating information of a direct karyotype to phenotype correlation. Knowledge of phenotypic consequences of a specific chromosomal imbalance is important for genetic counseling and prenatal diagnosis. However, for unbalanced non-Robertsonian translocations a precise karyotype to phenotype correlation is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 15057986
DOI: 10.1002/ajmg.a.20563

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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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