Article
Characterization of a supernumerary small marker X chromosome in two females with similar phenotypes.
American journal of medical genetics - 26 Feb 1998
Tümer Z, Wolff D, Silahtaroglu A N, Orum A, Brøndum-Nielsen K
Abstract excerpt
We describe two female patients mosaic for a cell line with an extra marker X chromosome in addition to a normal 46,XX cell line. To our knowledge, these cases are the first reports of females who had a cell line with a supernumerary marker X chromosome in addition to a normal cell line. They als...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Chromosome Aberrations
- Craniofacial Abnormalities
- Dosage Compensation, Genetic
- Female
- Foot Deformities, Congenital
- Genetic Markers
- Hand Deformities, Congenital
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability
- Mosaicism
- Obesity
- Phenotype
- X Chromosome