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Article

Microsatellite DNA markers detects 95% of chromosome 22q11 deletions.

American journal of medical genetics - 20 Jan 1997

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

Abstract excerpt

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...

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PMID: 9028455

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