Article
Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.
BMC medical genetics - 25 Jun 2004
Gould Douglas B, Jaafar Mohamad S, Addison Mark K, Munier Francis, Ritch Robert, MacDonald Ian M, Walter Michael A
Abstract excerpt
BACKGROUND: Thirty-nine patients have been described with deletions involving chromosome 6p25. However, relatively few of these deletions have had molecular characterization. Common phenotypes of 6p25 deletion syndrome patients include hydrocephalus, hearing loss, and ocular, craniofacial, skeletal, cardiac, and renal malformations. Molecular characterization of deletions can identify genes that are responsible...
Topics
- Abnormalities, Multiple
- Chromosome Deletion
- Chromosomes, Human, Pair 2
- Chromosomes, Human, Pair 4
- Chromosomes, Human, Pair 6
- Chromosomes, Human, Pair 8
- Eye Abnormalities
- Female
- Genetic Predisposition to Disease
- Hearing Loss
- Humans
- Male