Article
Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.
Annales de genetique - 1 Jan 1994
Demczuk S, Desmaze C, Aikem M, Prieur M, Ledeist F, Sanson M, Rouleau G, Thomas G, Aurias A
Abstract excerpt
The authors have studied a series of 23 DiGeorge syndrome patients by prometaphase chromosome analysis and/or by FISH with a set of 6 cosmid probes spanning the previously described commonly deleted region. Four patients display a cytogenetically visible interstitial deletion in band 22q11.2, whe...
Topics
- Adolescent
- Child
- Child, Preschool
- Chromosome Aberrations
- DiGeorge Syndrome
- Face
- Female
- Genetic Markers
- Heart Defects, Congenital
- Humans
- Hypocalcemia
- In Situ Hybridization, Fluorescence
- Infant
- Male
- Oligonucleotide Probes
- Parathyroid Glands
- Phenotype
- Sequence Deletion