Article
[Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].
Medicina clinica - 24 Mar 2007
Roselló Mónica, Monfort Sandra, Orellana Carmen, Oltra Silvestre, Martínez Garay Isabel, Martínez Francisco
Abstract excerpt
BACKGROUND AND OBJECTIVE: Subtelomeric chromosome imbalances are increasingly known as a cause for mental retardation. New phenotypes associated with specific rearrangements are also being delineated, such as 9q microdeletion syndrome. Here we define the major phenotypic features and the parental origin of 9q deletion. PATIENTS AND METHOD: We present 2 children with a phenotype that is characterized by mental...
Topics
- Adult
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 9
- Fathers
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability
- Male
- Nucleic Acid Amplification Techniques
- Phenotype
- Syndrome
- Telomere