Article
Natural history of mosaic trisomy 14 syndrome.
American journal of medical genetics - 15 Sept 1992
Fujimoto A, Allanson J, Crowe C A, Lipson M H, Johnson V P
Abstract excerpt
Trisomy 14 mosaicism produces a distinct phenotype. Among the 13 reported and 2 additional patients, the following findings were present in more than 90%: growth retardation (15/15), psychomotor retardation (10/10), broad nose (13/14), "dysplastic" and/or apparently low-set ears (15/15), microgna...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosomes, Human, Pair 14
- Face
- Female
- Growth Disorders
- Heart Defects, Congenital
- Humans
- Intellectual Disability
- Male
- Mosaicism
- Phenotype
- Syndrome
- Trisomy