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Article

[Another grey zone for clinical genetics: chromosomal microduplication 22q11.2].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2007

Zhao Yan-hui, Li Ling Jesse

Abstract excerpt

Theoretically, microduplication of chromosomal region 22q11.2, which is rich in segmental duplications, should be as frequent as microdeletions of the same region. Preliminary analysis on the rarity of reports for 22q11.2 microduplication in the literature has suggested that, for the discovery of...

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PMID: 17922425

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17922425-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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[Another grey zone for clinical genetics: chromosomal microduplication 22q11.2].PMID 17922425Read ↗

[22q11.2 deletion syndrome: importance of clinical evaluation and FISH analysis].Semantic proximity Read ↗

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

[Molecular basis of microdeletion 22q11].Semantic proximity Read ↗

[Prenatal diagnosis and genetic counseling in 19 cases with 22q11.2 microduplications].Semantic proximity Read ↗

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlationsSemantic proximity Read ↗

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.Semantic proximity Read ↗

[Does the prevalence of recurrent pathogenic microdeletions and microdoublements in prenatal diagnosis lead to a reassessment of the evolution of non-invasive screening techniques? The example of region 22q11.2].Semantic proximity Read ↗

[Genetic analysis of a case with 2q37 microdeletion syndrome].Semantic proximity Read ↗

Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experienceSemantic proximity Read ↗

[Answer to the article by F. Vialrd et al.: Does the prevalence of recurrent pathogenic microdeletions and microdoublements in prenatal diagnosis lead to a reassessment of the evolution of non-invasive screening techniques? The example of region 22q11.2].Semantic proximity Read ↗

Two adjacent microdeletions in 8q11.2 cause a phenotype suggestive of the 22q11 deletion syndrome.Semantic proximity Read ↗

Fragile X syndrome and 22q11.2 microdeletion in the same sibship.Semantic proximity Read ↗

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