Article
Alagille syndrome with de novo del(20) (p11.2).
American journal of medical genetics - 1 Jan 1992
Teebi A S, Murthy D S, Ismail E A, Redha A A
Abstract excerpt
We report on an Arab boy with Alagille syndrome and a de novo deletion of the short arm of chromosome 20 with a 46,XY, del(20)(p11.2) chromosome constitution. Other reported cases are briefly reviewed.
Topics
- Alagille Syndrome
- Chromosome Deletion
- Chromosomes, Human, Pair 20
- Humans
- Infant
- Male
- Phenotype
