Document Detail

Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study.
MedLine Citation:
PMID:  8757559     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: To assess the incidence of microdeletions of chromosomal region 22q11 in a population of infants coming to a regional pediatric cardiac center with selected abnormalities of the ventricular outflow tracts and aortic arch and, further, to provide phenotypic/genetic correlations to determine whether patients with 22q11 deletions can be clinically recognized in infancy. BACKGROUND: DiGeorge syndrome and velocardiofacial syndrome are frequently associated with malformations of the ventricular outflow tracts and aortic arch. Both are usually caused by microdeletions of chromosomal region 22q11. The overall importance of such deletions as a cause of these cardiac malformations remains to be established. STUDY DESIGN: All infants with the candidate cardiac phenotypes during a 34-month period were studied. Dysmorphic features, type of cardiac defect, serum calcium concentration, and thymic status were recorded. Cytogenetic studies, including high-resolution karyotyping and fluorescence in situ hybridization using cosmids (cEO or cH748) from the DiGeorge critical region, were performed after clinical assessment. RESULTS: Fifty infants (including 36 with tetralogy of Fallot with or without pulmonary atresia) were seen during the study period. Twenty-six infants (52%) were dysmorphic, including 19 who were considered to have a phenotypic appearance consistent with 22q11 deletion. Genetic analysis confirmed hemizygosity for 22q11 in 8 of these 19 cases. Results of fluorescence in situ hybridization studies were normal in 22 infants without dysmorphic features and in 5 infants with dysmorphic features not suggestive of a 22q11 deletion. CONCLUSIONS: Microdeletions of chromosomal region 22q11 are an important cause of selected malformations of the ventricular outflow tracts and aortic arch and account for about 15% to 20% of cases. These deletions may be clinically recognized in early infancy and can be rapidly confirmed by fluorescence in situ hybridization.
S A Webber; E Hatchwell; J C Barber; P E Daubeney; J A Crolla; A P Salmon; B R Keeton; I K Temple; N R Dennis
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  129     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  1996 Jul 
Date Detail:
Created Date:  1996-12-04     Completed Date:  1996-12-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  26-32     Citation Subset:  AIM; IM    
Wessex Cardiothoracic Centre, Southampton General Hospital, United Kingdom.
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MeSH Terms
Aorta, Thoracic / abnormalities
Chromosome Deletion*
Chromosomes, Human, Pair 22 / genetics*
DiGeorge Syndrome / genetics
Heart Defects, Congenital / genetics*
Heart Septal Defects, Ventricular / genetics
Hypocalcemia / genetics
In Situ Hybridization, Fluorescence
Infant, Newborn
Prospective Studies
Pulmonary Atresia / genetics
Pulmonary Valve Stenosis / genetics
Tetralogy of Fallot / genetics
Comment In:
J Pediatr. 1997 Apr;130(4):675-7   [PMID:  9108874 ]
J Pediatr. 1996 Jul;129(1):1-3   [PMID:  8757555 ]

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