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Article

Subtelomeric trisomy 21q: a new benign chromosomal variant.

European journal of medical genetics - 1 Jan 2000

Bonaglia Maria Clara, Marelli Susan, Gottardi Giulietta, Zucca Claudio, Pramparo Tiziano, Giorda Roberto, Grasso Rita, Borgatti Renato, Zuffardi Orsetta

Abstract excerpt

The diagnosis of a subtelomeric rearrangement has immediate impact on counseling, particularly in the case of familial rearrangements. However, the existence of subtelomeric imbalances with absent phenotypic effects may hamper genetic counseling, particularly when the rearrangement has not been previously described. We report on a new subtelomeric polymorphism, consisting of a familial subtelomeric rearrangement...

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Source

Identifiers

PMID: 17055792
DOI: 10.1016/j.ejmg.2006.07.001

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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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