Article
Macrocephaly, hypospadias grade III-IV, and fragile X-like behavior in identical twins without involvement of the FMR-1 gene.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1996
Fryns J P, D'Hooghe M, Devriendt K
Abstract excerpt
We present the distinct clinical symptoms and stigmata in 4.5 years old monozygotic male twins: macrocephaly, hypospadias grade III-IV, moderate mental retardation and fragile X-like behavior. Chromosome studies were normal and no FMR-1 mutation could be detected. We could not find other reports on the association of a fragile X-like clinical and behavioral phenotype and hypospadias grade III-IV.
Topics
- Child, Preschool
- Craniofacial Abnormalities
- Diseases in Twins
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Humans
- Hypospadias
- Intellectual Disability
- Male
- Nerve Tissue Proteins
- Phenotype
- RNA-Binding Proteins
- Twins, Monozygotic