Article
Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome.
American journal of medical genetics - 13 Feb 1995
Wheeler P G, Weaver D D, Palmer C G
Abstract excerpt
A chromosomal translocation between chromosomes 4 and 8 resulting in Wolf-Hirschhorn syndrome in 2 individuals has been traced through 4 generations of a family. Ascertainment of the family was through a newborn infant with evident Wolf-Hirschhorn syndrome who had an unbalanced chromosomal transl...
Topics
- Abnormalities, Multiple
- Adult
- Chromosome Deletion
- Chromosomes, Human, Pair 4
- Chromosomes, Human, Pair 8
- Face
- Female
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability
- Karyotyping