Article
Child with Sotos phenotype and a 5:15 translocation.
American journal of medical genetics - 15 Apr 1994
Maroun C, Schmerler S, Hutcheon R G
Abstract excerpt
We report on a 4-year-old girl with Sotos phenotype and a de novo balanced translocation between the long arms of chromosome 5 and chromosome 15 [46,XX,t(5,15)(q35;q22)]. We suggest a relationship between genetic material at 5q35 or 15q22 and the expression of an autosomal dominant gene.
Topics
- Abnormalities, Multiple
- Chromosomes, Human, Pair 15
- Chromosomes, Human, Pair 5
- Face
- Female
- Fingers
- Genes, Dominant
- Gigantism
- Head
- Humans
- Infant, Newborn
- Palate
- Phenotype
- Psychomotor Disorders
- Syndrome
- Translocation, Genetic
