Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden
About this item
Full title
Author / Creator
Óskarsdóttir, S , Vujic, M and Fasth, A
Publisher
London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title
Language
English
Formats
Publication information
Publisher
London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Subjects
More information
Scope and Contents
Contents
Backgound: Almost all cases of DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome result from a common deletion of chromosome 22q11.2. These syndromes are usually referred to as the 22q11 deletion syndrome (22q11DS), which has a wide phenotypic spectrum and an estimated incidence of one in 4000 births. Aims: To ass...
Alternative Titles
Full title
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_gup_ub_gu_se_58782
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_gup_ub_gu_se_58782
Other Identifiers
ISSN
0003-9888,1468-2044
E-ISSN
1468-2044
DOI
10.1136/adc.2003.026880
