Genetic compensation in a human genomic disorder.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 19297573.
- Also identified by DOI 10.1056/NEJMoa0806544.
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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.
Medical subject headings
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- DiGeorge Syndrome
- Dosage Compensation, Genetic
- Gene Duplication