Article
Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?
Annales de genetique - 1 Jan 1991
Warburton D, Anyane-Yeboa K, Taterka P, Yu C Y, Olsen D
Abstract excerpt
We report the case of a 17 year old girl with severe microcephaly and mental retardation, in whom karyotype analysis of PHA-stimulated lymphocytes, cultured skin fibroblasts, direct and cultured bone marrow and EBV-transformed lymphoblasts all showed at least 10% of cells with trisomy, which could be for many different chromosomes. All trisomies except 5, 10, 13, 14 and 17 were observed. Tissue-specific...
Topics
- Adolescent
- Aneuploidy
- Female
- Humans
- Intellectual Disability
- Karyotyping
- Microcephaly
- Mitosis
- Mosaicism
- Mutation
- Syndrome
- Trisomy