Microsatellite DNA markers detects 95% of chromosome 22q11 deletions

Journal Article · Mon Jan 20 00:00:00 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, Vol. 68, Issue 2; Other Information: PBD: 20 Jan 1997
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
INFANTS
HEREDITARY DISEASES
CONGENITAL DISEASES
GENOTYPE
HUMAN CHROMOSOME 22
CHROMOSOMAL ABERRATIONS
DETECTION
CARDIOVASCULAR SYSTEM
CONGENITAL MALFORMATIONS
GENES
GENE MUTATIONS
BIOLOGICAL MARKERS
POLYMERASE CHAIN REACTION
GENETICS
FLUORESCENCE
IN-SITU HYBRIDIZATION