Article
Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22.
American journal of medical genetics. Part A - 1 Oct 2004
Battini R, Battaglia A, Bertini V, Cioni G, Parrini B, Rapalini E, Simi P, Tinelli F, Valetto A
Abstract excerpt
The clinical phenotype of patients with ring chromosome 22 includes mental retardation with severe language impairment, hypotonia, and dysmorphic facial features. In recent years an increasing number of patients with microscopic as well as cryptic terminal deletion involving band 22q13 have been described and their phenotype shows clinical features overlapping with patients with ring chromosome 22. Loss of DNA in...
Topics
- Abnormalities, Multiple
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- Face
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability
- Language Disorders
- Male
- Muscle Hypotonia
- Phenotype
- Ring Chromosomes