Article
Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.
Human genetics - 1 Aug 1997
Wolff D J, Gustashaw K M, Zurcher V, Ko L, White W, Weiss L, Van Dyke D L, Schwartz S, Willard H F
Abstract excerpt
High resolution cytogenetics, microsatellite marker analyses, and fluorescence in situ hybridization were used to define Xq deletions encompassing the fragile X gene, FMR1, detected in individuals from two unrelated families. In Family 1, a 19-year-old male had facial features consistent with fragile X syndrome; however, his profound mental and growth retardation, small testes, and lover limb skeletal defects and...
Topics
- Adult
- Child
- Chromosome Banding
- Chromosome Deletion
- Chromosome Mapping
- Dosage Compensation, Genetic
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Nerve Tissue Proteins