Article
The importance of further cytogenetic and molecular investigation of acrocentric variants: justification by presentation of a case [t(8;14)(q24;p11)].
Human genetics - 1 Jun 1991
Hills L, Earle E, Wilson M, Petrovic V, Voullaire L E, Leversha M, Danks D M, Choo K H
Abstract excerpt
On routine chromosome analysis a moderately retarded 18-year-old man was found to have an unusual short arm on one chromosome 14. With GTL-banding this chromosome showed an enlarged short arm with no evident secondary constriction. Negative CBG-banding of the short arm suggested the possibility of a translocation involving euchromatin. Interpretation of the abnormality as an unbalanced translocation relied on...
Topics
- Adolescent
- Chromosome Banding
- Chromosomes, Human, Pair 14
- Chromosomes, Human, Pair 8
- DNA Probes
- Humans
- Intellectual Disability
- Karyotyping
- Male
- Nucleic Acid Hybridization