Journal article
Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients
Abstract
Interstitial deletions involving 6q11-q14 have been reported in less than 20 patients, with the breakpoints studied by G-banding alone. We report on seven patients with 6q11-q14 interstitial deletions of variable size. The breakpoints were studied by G-banding, dual-color BAC-FISH and SNP array. The results showed the molecular breakpoints differed significantly from the ones obtained from G-banding. The breakpoints studied by BAC-FISH were …
Authors
Wang J; Dang L; Lomax B; Turner L; Shago M; Teebi AS; Klatt R; MacLeod PM; Yong S; Nowaczyk MJM
Journal
American Journal of Medical Genetics Part A, Vol. 149A, No. 3, pp. 372–379
Publisher
Wiley
Publication Date
March 2009
DOI
10.1002/ajmg.a.32675
ISSN
1552-4825
Associated Experts
Fields of Research (FoR)
Medical Subject Headings (MeSH)
AdultChromosome BandingChromosome BreakageChromosome MappingChromosomes, Artificial, BacterialChromosomes, Human, Pair 6Cohort StudiesFaceFemaleHernia, UmbilicalHumansIn Situ Hybridization, FluorescenceInfant, NewbornKaryotypingMaleMuscle HypotoniaPedigreePolymorphism, Single NucleotidePregnancyPremature BirthSequence DeletionYoung Adult