Article
Two brothers with mental retardation discordant for the fragile-X syndrome.
American journal of medical genetics - 1 May 1990
Van Roy B C, Willems P J, Vits L J, Ceulemans B P, Coucke P J, Van der Auwera B J, Lormans J A, Dumon J E
Abstract excerpt
We describe two male sibs with mental retardation discordant for the fragile-X syndrome. In the younger sib, chromosome analysis under folate deprivation showed a fragile site at Xq27.3 in 12-46% of mitoses. In the older sib, however, repeated chromosome analyses (six different cultures with analysis of 50 mitoses each) under identical conditions could not detect any fragile-X site. Using DNA probes linked to the...
Topics
- Adult
- Child
- DNA
- DNA Probes
- Fragile X Syndrome
- Humans
- Intellectual Disability
- Male
- Pedigree
- Phenotype
- Sex Chromosome Aberrations