Article
Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).
Journal of medical genetics - 1 Jul 1998
Plomp A S, Engelen J J, Albrechts J C, de Die-Smulders C E, Hamers A J
Abstract excerpt
We report on two mentally retarded adults with an unbalanced karyotype resulting from a familial balanced translocation between chromosomes 8 and 21, t(8;21)(p21.1;q22.3). This translocation has not been reported before. Both patients had partial trisomy 8p and partial monosomy 21q. Fluorescence...
Topics
- Adult
- Chromosome Deletion
- Chromosomes, Human, Pair 21
- Chromosomes, Human, Pair 8
- Craniofacial Abnormalities
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability
- Karyotyping
- Middle Aged
- Pedigree
- Phenotype
- Translocation, Genetic