Article
Duplication 10q confirmed by DNA in situ hybridization.
American journal of medical genetics - 15 Aug 1994
Johnson V P, Sutliff W C
Abstract excerpt
Partial duplication of 10q is a recognizable clinical entity. In most of the reported cases, the trisomic segment is identified by a balanced translocation state in a parent. Verification remains a problem in de novo cases. However, the recent availability of whole chromosome probes allows for co...
Topics
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 10
- DNA Probes
- Dwarfism
- Female
- Foot Deformities, Congenital
- Humans
- In Situ Hybridization
- Infant, Newborn
- Intellectual Disability
- Multigene Family
- Phenotype