Article
Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation.
Annales de genetique - 1 Jan 1994
Bitoun P, Martin-Pont B, Tamboise E, Gaudelus J
Abstract excerpt
A 12-year-old girl presents with optic atrophy, pale papilla, amblyopia and microcephaly (-3 s.d.) with mild mental retardation and facial dysmorphism. She had mitral insufficiency with mitral prolapse and moderate short stature (-2.5 d.s.). She had normal flash visual evoked potentials, normal e...
Topics
- Abnormalities, Multiple
- Aneuploidy
- Child
- Dwarfism
- Female
- Genetic Markers
- Humans
- Intellectual Disability
- Karyotyping
- Microcephaly
- Mitosis
- Mitral Valve Prolapse
- Mosaicism
- Mutation
- Optic Atrophy