Article
Three patients with ring (X) chromosomes and a severe phenotype.
Journal of medical genetics - 1 Jun 1993
Dennis N R, Collins A L, Crolla J A, Cockwell A E, Fisher A M, Jacobs P A
Abstract excerpt
Three patients with mosaicism and a cell line containing a small ring (X) chromosome are described. Their phenotype is similar to several previously reported patients with a 45,X/46,X,r(X) karyotype and a phenotype far more severely affected than expected in Turner's syndrome. The clinical pictur...
Topics
- Dosage Compensation, Genetic
- Female
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability
- Mosaicism
- Phenotype
- Physiognomy
- RNA, Long Noncoding
- RNA, Untranslated
- Ring Chromosomes
- Transcription Factors
- Turner Syndrome