Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3). [electronic resource]
Producer: 20050124Description: 325-30 p. digitalISSN:- 1552-4825
- Abnormalities, Multiple -- genetics
- Child, Preschool
- Chromosomes, Human, X
- Chromosomes, Human, Y
- DAX-1 Orphan Nuclear Receptor
- DNA-Binding Proteins -- genetics
- Disorders of Sex Development
- Female
- Genes, Duplicate -- genetics
- Humans
- Intellectual Disability -- genetics
- Karyotyping
- Receptors, Retinoic Acid -- genetics
- Repressor Proteins -- genetics
- Sex Chromosome Aberrations
- Syndrome
- Translocation, Genetic -- genetics
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Publication Type: Letter
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