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Article

Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.

American journal of medical genetics. Part A - 1 Mar 2011

Alkalay Avishai A, Guo Tingwei, Montagna Cristina, Digilio M Cristina, Dallapiccola Bruno, Marino Bruno, Morrow Bernice

Abstract excerpt

Cytogenetic studies of a male child carrying the 22q11.2 deletion common in patients with velo-cardio-facial/DiGeorge syndrome showed an unexpected rearrangement of the 22q11.2 region in his normal appearing mother. The mother carried a 3 Mb deletion on one copy and a reciprocal, similar sized duplication on the other copy of chromosome 22q11.2 as shown by fluorescence in situ hybridization and array comparative...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DiGeorge Syndrome

Share to DNA Copy Number Variations

Share to Dosage Compensation, Genetic

Share to Family

Share to In Situ Hybridization, Fluorescence

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Source

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Identifiers

PMID: 21337693
DOI: 10.1002/ajmg.a.33861
PMCID: PMC4081864

Provenance

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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