Article
Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype.
Nature genetics - 1 Nov 1994
Lahn B T, Ma N, Breg W R, Stratton R, Surti U, Page D C
Abstract excerpt
The critical importance of dosage compensation is underscored by a novel human syndrome ("XYXq syndrome") in which we have detected partial X disomy, demonstrated supernormal gene expression resulting from the absence of X inactivation, and correlated this overexpression with its phenotypic conse...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Crossing Over, Genetic
- Dosage Compensation, Genetic
- Female
- Gene Expression Regulation
- Glucosephosphate Dehydrogenase
- Humans
- Intellectual Disability
- Male
- Microcephaly
- Muscle Hypotonia