Article
Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat.
American journal of medical genetics - 1 Sept 1993
Qumsiyeh M B, Stevens C A
Abstract excerpt
High-resolution chromosome banding and in situ hybridization with combined cosmid and alphoid sequence probes were used to delineate a very small reciprocal translocation in a mother and her two children. The first child has a 46,XX,der(4)t(4;5)(p16.3;p15.3)mat and thus has a deletion of 4p16.3--...
Topics
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 4
- Chromosomes, Human, Pair 5
- DNA Probes
- DNA, Satellite
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Intellectual Disability
- Karyotyping
- Male
- Multigene Family
- Phenotype
- Sequence Deletion
- Syndrome