Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).
Am J Med Genet
; 86(1): 27-33, 1999 Sep 03.
Article
in En
| MEDLINE
| ID: mdl-10440825
ABSTRACT
The apparent lack of genotype/phenotype correlation in patients with the DiGeorge anomaly and velocardiofacial syndrome (DGA/VCFS; the "22q11 deletion syndrome") indicates a complex genetic condition. Most cases, whatever the phenotype, have a 1.5-3 Mb chromosomal deletion that includes the minimal DiGeorge critical region (MDGCR). Another potential critical region on 22q11 has been suggested based on two patients with distal deletions outside the MDGCR. We report on a patient with a VCFS phenotype who has a deletion, mapped by short tandem repeat polymorphic loci and fluorescence in situ hybridization analysis, distal to and not overlapping the MDGCR. This patient is deleted for several genes, including the T-box 1 gene (TBX1; a transcription regulator expressed early in embryogenesis) and catechol-O-methyltransferase (COMT; involved in neurotransmitter metabolism). We discuss the role these two genes may play in the clinical phenotype of the patient.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomes, Human, Pair 22
/
Chromosome Aberrations
/
Chromosome Deletion
/
Physical Chromosome Mapping
/
T-Box Domain Proteins
/
DiGeorge Syndrome
Type of study:
Diagnostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Am J Med Genet
Year:
1999
Document type:
Article
Affiliation country:
Australia