Ontology highlight
ABSTRACT:
SUBMITTER: Sorensen KM
PROVIDER: S-EPMC2871720 | biostudies-literature | 2010 Mar
REPOSITORIES: biostudies-literature
Sørensen Karina M KM Agergaard Peter P Olesen Charlotte C Andersen Paal S PS Larsen Lars A LA Ostergaard John R JR Schouten Jan P JP Christiansen Michael M
The Journal of molecular diagnostics : JMD 20100114 2
The 22q11 deletion syndrome, which is caused by a 1.5- to 3.0-megabase hemizygous deletion in chromosome 22q11.2, has a prevalence of 1/2000 to 1/4000. However, the syndrome presents with highly variable phenotypes and thus may be underestimated among Danish newborns. To establish a true incidence of 22q11.2 deletions among certain manifestations, eg, congenital heart disease, on selected Danes, a multiplex ligation-dependant probe amplification (MLPA) analysis was designed. The analysis was pla ...[more]