Article
A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes.
Annals of human genetics - 1 Jul 2000
Dennis N, Coppin B, Turner C, Skuse D, Jacobs P
Abstract excerpt
We studied 47 patients with a 45,X/46,X,r(X) karyotype to identify phenotypic differences between these patients and 45,X patients, and to determine whether these differences could be explained by the status of genes within the ring. Only 2 patients had the 'severe' r(X) phenotype, and both were consistent with this resulting from functional disomy of genes normally subject to X inactivation. A further 7 patients...
Topics
- Adolescent
- Adult
- Child
- Cytogenetics
- Dosage Compensation, Genetic
- Edema
- Female
- Humans
- Karyotyping
- Male
- Mosaicism
- Parents
- Phenotype
- RNA, Long Noncoding
- RNA, Untranslated
- Ring Chromosomes
- Transcription Factors
- Turner Syndrome