Microsatellite DNA markers detects 95% of chromosome 22q11 deletions

D Bonnet; V Cormier-Daire; J Kachaner; I Szezepanski; P Souillard; D Sidi; A Munnich; S Lyonnet

Microsatellite DNA markers detects 95% of chromosome 22q11 deletions

Am J Med Genet. 1997 Jan 20;68(2):182-4.

Authors

D Bonnet¹, V Cormier-Daire, J Kachaner, I Szezepanski, P Souillard, D Sidi, A Munnich, S Lyonnet

Affiliation

¹ Unité de Recherches sur les Handicaps Génétiques de l'Enfant-INSERM U-393, Hôpital des Enfants Malades, Paris, France.

PMID: 9028455

Abstract

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.

MeSH terms

Alleles
Chromosomes, Human, Pair 22 / genetics*
DiGeorge Syndrome / diagnosis*
DiGeorge Syndrome / genetics*
Heart Defects, Congenital / diagnosis
Heart Defects, Congenital / genetics
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Microsatellite Repeats*
Pedigree
Polymerase Chain Reaction
Sequence Deletion