Article
First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature.
Cytogenetic and genome research - 1 Jan 2005
Trimborn M, Grueters A, Neitzel H, Tönnies H
Abstract excerpt
We report the identification and characterization of the first supernumerary ring chromosome 10 containing a considerable proportion of 10q euchromatin by microdissection and reverse painting in a female patient presenting with short stature. Fluorescence in situ hybridization studies showed that the marker chromosome originates from chromosome 10 and includes the euchromatic bands p11.2 and q11.2. The...
Topics
- Adolescent
- Attention Deficit Disorder with Hyperactivity
- Chromosomes, Human, Pair 10
- Cytogenetic Analysis
- Developmental Disabilities
- Euchromatin
- Female
- Growth Disorders
- Humans
- Muscle Hypotonia
- Phenotype
- Ring Chromosomes