Article
Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1998
Jordan M A, Marques I, Rosendorff J, de Ravel T J
Abstract excerpt
Trisomy 8 mosaicism is extremely variable in its phenotypic and cytogenic expression. We present five patients clearly demonstrating the lack of correlation between clinical and laboratory findings, and show that the aneuploid cell lines decreases with time in relation to the normal. This poses a...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Chromosome Banding
- Chromosomes, Human, Pair 8
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Intellectual Disability
- Intelligence
- Male
- Mosaicism
- Phenotype
- Trisomy
