Article
Genetic compensation in a human genomic disorder.
The New England journal of medicine - 19 Mar 2009
Carelle-Calmels Nadège, Saugier-Veber Pascale, Girard-Lemaire Françoise, Rudolf Gabrielle, Doray Bérénice, Guérin Eric, Kuhn Pierre, Arrivé Mathilde, Gilch Catherine, Schmitt Evelyne, Fehrenbach Séverine, Schnebelen Albert, Frébourg Thierry, Flori Elisabeth
Abstract excerpt
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...
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