Microsatellite DNA markers detects 95% of chromosome 22q11 deletions
- INSERM, Paris (France); and others
Cono-truncal cardiac malformations account for some 50% of congenital heart defects in newborn infants. Recently, hemizygosity for chromosome 22q11.2 was reported in patients with the DiGeorge/Velo-cardio-facial syndromes (DGS/VCFS) and causally related disorders. We have explored the potential use of microsatellite DNA markers for rapid detection of 22q11 deletions in 19 newborn infants referred for cono-truncal heart malformations with associated DGS/VCFS anomalies. A failure of parental inheritance was documented in 84.2% of cases (16/19). PCR-based genotyping using microsatellite DNA markers located within the commonly deleted region allowed us either to confirm or reject a 22q11 microdeletion in 94.3% of cases (18/19) within 24 hours. This test is now currently performed in the infants referred to us for a cono-truncal heart malformation as a first intention screening for 22q11 microdeletion. 10 refs., 1 fig., 1 tab.
- OSTI ID:
- 518291
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 68; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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BASIC STUDIES
BIOLOGICAL MARKERS
CARDIOVASCULAR SYSTEM
CHROMOSOMAL ABERRATIONS
CONGENITAL DISEASES
CONGENITAL MALFORMATIONS
DETECTION
FLUORESCENCE
GENE MUTATIONS
GENES
GENETICS
GENOTYPE
HEREDITARY DISEASES
HUMAN CHROMOSOME 22
IN-SITU HYBRIDIZATION
INFANTS
POLYMERASE CHAIN REACTION