Article
45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome.
American journal of medical genetics - 1 Jan 1992
Grompe M, Rao N, Elder F F, Caskey C T, Greenberg F
Abstract excerpt
We present a patient with 45,X/46,X,+r(X) mosaicism and lack of inactivation of either the normal or the ring X in the 46,X,+r(X) cells. The patient has mental retardation, syndactyly, minor facial anomalies, and a congenital heart defect. Although most patients with 45,X/46,X,+r(X) have the Ullrich-Turner syndrome, 2 previously described patients with this karyotype also had a distinct phenotype consisting of...
Topics
- Adult
- Child, Preschool
- Dosage Compensation, Genetic
- Face
- Female
- Heart Defects, Congenital
- Humans
- Intellectual Disability
- Male
- Mosaicism
- Pedigree
- Phenotype