Article
Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.
American journal of medical genetics. Part A - 15 Nov 2008
van Steensel M A M, Vreeburg M, Engelen J, Ghesquiere S, Stegmann A P A, Herbergs J, van Lent J, Smeets B, Vles J H
Abstract excerpt
Microdeletions of Xp22.3 are associated with contiguous gene syndromes, the extent and nature of which depend on the genes encompassed by the deletion. Common symptoms include ichthyosis, mental retardation and hypogonadism. We report on a boy with short stature, ichthyosis, severe mental retardation, cortical heterotopias and Dandy-Walker malformation. The latter two abnormalities have so far not been reported...
Topics
- Abnormalities, Multiple
- Chromosome Deletion
- Chromosomes, Human, X
- Dandy-Walker Syndrome
- Epilepsy
- Growth Disorders
- Humans
- Ichthyosis, X-Linked
- Intellectual Disability
- Male
- Malformations of Cortical Development
- Phenotype