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Article

Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families.

American journal of medical genetics. Part A - 15 Mar 2008

Courtens Winnie, Schramme Inge, Laridon Annick

Abstract excerpt

We report on two unrelated families where the probands presented with learning difficulties and a microduplication 22q11.2. In the first family the proband was a 7-year-old boy who was referred because of psychomotor retardation, behavioral problems, large weight and height, and mild dysmorphism....

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Identifiers

PMID: 18260141
DOI: 10.1002/ajmg.a.31910

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18260141-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families.PMID 18260141Read ↗

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