Most @entity1 with @entity3297 ( @entity3297 ) have a heterozygous 1.55 Mb deletion on chromosome 7q11.23. For diagnostic purposes, fluorescence in situ hybridisation (FISH) with commercial FISH probes is commonly used to detect this deletion. We investigated whether multiplex ligation-dependent probe amplification (MLPA) is a reliable alternative for FISH. The MLPA kit (SALSA P029) contains probes for eight genes in the @entity3297 critical region: @entity68681 , @entity29656 , @entity68682 , @entity10952 , @entity2362 , @entity21357 , @entity68683 , and @entity31861 . The experimental FISH assay that was used consists of four probes covering the @entity3297 critical region. A total number of 63 @entity1 was tested; in 53 @entity1 , a deletion was detected both with FISH and MLPA(P029), in 10 @entity1 both techniques failed to demonstrate a deletion. In only one @entity1 , a deletion was detected which was not previously detected by two commercial FISH probes. This @entity1 appeared to carry a small, atypical deletion. We conclude that MLPA is a reliable technique to detect @entity3297 . Compared with FISH, MLPA is less time consuming and has the possibility to detect also smaller, atypical deletions and duplications in the @entity3297 critical region.

Comparing two diagnostic laboratory tests for XXXX : fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient', 'people'] @entity68681 :: ('8468', 'Gene') :: ['FKBP6'] @entity21357 :: ('3984', 'Gene') :: ['LIMK1'] @entity2362 :: ('2006', 'Gene') :: ['ELN'] @entity68683 :: ('5982', 'Gene') :: ['RFC2'] @entity31861 :: ('7461', 'Gene') :: ['CYLN2'] @entity3297 :: ('MESH:D018980', 'Disease') :: ['Williams syndrome', 'WS'] @entity68682 :: ('26608', 'Gene') :: ['TBL2'] @entity10952 :: ('6804', 'Gene') :: ['STX1A'] @entity29656 :: ('8326', 'Gene') :: ['FZD9']
@entity3297 :: (MESH:D018980,Disease) :: ['Williams syndrome']
