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Genetic Compensation in a Human Genomic Disorder

Year: 2009

Type: article

Abstract: Cytogenetic studies of the parents of a girl with the DiGeorge (or velocardiofacial) syndrome, who carried a deletion at 22q11.2, revealed an unexpected rearrangement of both 22q11.2 regions in the unaffected father. He carried a 22q11.2 deletion on one copy of chromosome 22 and a reciprocal 22q11.2 duplication on the other copy of chromosome 22. Genetic compensation, which is consistent with the normal phenotype of the father, was shown through quantitative-expression analyses of genes located within the genetic region associated with the DiGeorge syndrome. This finding has implications for genetic counseling and represents a case of genetic compensation in a human genomic disorder.

Source: New England Journal of Medicine

DOI: 10.1056/nejmoa0806544

Authors: Nadège Carelle-Calmels, Pascale Saugier-Veber, Françoise Girard-Lemaire, Gabrielle Rudolf, Bérénice Doray, Eric Guérin, Pierre Kuhn, Mathilde Arrivé, Catherine Gilch, Evelyne Schmitt, Séverine Fehrenbach, Albert Schnebelen, Thierry Frébourg, Elisabeth Flori

Institutions: Hôpitaux Universitaires de Strasbourg, Université de Rouen Normandie

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2014569802

FWCI: 2.968

Cites: 20

Cited by: 59

Related to: 10