Article
De novo duplication of 12pter-->p12.1: clinical and cytogenetic diagnosis confirmed by chromosome painting.
Clinical genetics - 1 Mar 1997
Back E, Kratzer W, Zeitler S, Schempp W
Abstract excerpt
A 12.5-year-old male patient with a de novo derivative chromosome 22 is reported. A detailed description of the clinical features and comparison with the results of conventional cytogenetic banding methods indicated that the derivative chromosome might have been caused by a translocation between...
Topics
- Adolescent
- Chromosomes, Human, Pair 12
- Chromosomes, Human, Pair 22
- Facies
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Phenotype
- Translocation, Genetic
