Article
Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy.
American journal of medical genetics - 1 Nov 1992
Lin S P, Petty E M, Gibson L H, Inserra J, Seashore M R, Yang-Feng T L
Abstract excerpt
We describe a male twin with the smallest terminal deletion of chromosome 2q [46,XY,del(2)(q37.2)] reported to date. His deletion was confirmed by a fluorescence in situ hybridization study using a probe from the deleted region. Only 3 other cases with larger deletions including 2q37.2-->qter have been reported. Clinical manifestations our patient has in common with them include frontal bossing, long eyelashes,...
Topics
- Adult
- Child, Preschool
- Chromosome Aberrations
- Chromosome Banding
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 2
- Female
- Humans
- In Situ Hybridization
- Male