Document Detail

Microsatellite DNA markers detects 95% of chromosome 22q11 deletions.
MedLine Citation:
PMID:  9028455     Owner:  NLM     Status:  MEDLINE    
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.
D Bonnet; V Cormier-Daire; J Kachaner; I Szezepanski; P Souillard; D Sidi; A Munnich; S Lyonnet
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  68     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1997 Jan 
Date Detail:
Created Date:  1997-04-25     Completed Date:  1997-04-25     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  182-4     Citation Subset:  IM    
Unité de Recherches sur les Handicaps Génétiques de l'Enfant-INSERM U-393, Hôpital des Enfants Malades, Paris, France.
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MeSH Terms
Chromosomes, Human, Pair 22 / genetics*
DiGeorge Syndrome / diagnosis*,  genetics*
Heart Defects, Congenital / diagnosis,  genetics
In Situ Hybridization, Fluorescence
Infant, Newborn
Microsatellite Repeats*
Polymerase Chain Reaction
Sequence Deletion

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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