Abstract
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.
MeSH terms
-
Abnormalities, Multiple / genetics*
-
Chromosomes, Human, Pair 15 / ultrastructure*
-
Chromosomes, Human, Pair 5 / ultrastructure*
-
Face / abnormalities*
-
Female
-
Fingers / abnormalities
-
Genes, Dominant*
-
Gigantism / genetics*
-
Head / abnormalities*
-
Humans
-
Infant, Newborn
-
Palate / abnormalities
-
Phenotype
-
Psychomotor Disorders / genetics
-
Syndrome
-
Translocation, Genetic*