Microsatellite DNA markers detects 95% of chromosome 22q11 deletions

Journal Article · Mon Jan 20 04:00:00 EST 1997 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19970120)68:2<182::AID-AJMG12>3.3.CO;2-B· OSTI ID:518291

Bonnet, D; Cormier-Daire, V; Munnich, A; Lyonnet, S ^[1]

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1. 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

Related Subjects

55 BIOLOGY AND MEDICINE
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