Article
Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization.
American journal of medical genetics - 2 Jan 1995
Blennow E, Nielsen K B, Telenius H, Carter N P, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjöld M
Abstract excerpt
Extra structurally abnormal chromosomes (ESACs) are small supernumerary chromosomes often associated with developmental abnormalities and malformations. We present 50 probands with ESACs characterized by fluorescence in situ hybridization using centromere-specific probes and chromosome-specific l...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosomes, Human, 13-15
- Chromosomes, Human, 21-22 and Y
- Chromosomes, Human, Pair 12
- Chromosomes, Human, Pair 18
- Female
- Genetic Markers
- Genetic Variation
- Heterozygote