title: 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 consistent with the ones from SNP array. Some characteristics from this cohort are consistent with previous reports, but many typical features are lacking in our patients. The cardinal features of 6q11-q14 interstitial deletions in this cohort include: umbilical hernia, hypotonia, short stature, characteristic facial features of upslanting palpebral fissures, low set and/or dysplastic ears, high arched palate, urinary tract anomalies, and skeletal/limb anomalies.
authors.affiliation: Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada. wangj@hhsc.ca
authors.forename: Jia-Chi
authors.initials: JC
authors.lastname: Wang
authors.forename: Linda
authors.initials: L
authors.lastname: Dang
authors.forename: Brenda
authors.initials: B
authors.lastname: Lomax
authors.forename: Lesley
authors.initials: L
authors.lastname: Turner
authors.forename: Mary
authors.initials: M
authors.lastname: Shago
authors.forename: Ahmad S
authors.initials: AS
authors.lastname: Teebi
authors.forename: Regan
authors.initials: R
authors.lastname: Klatt
authors.forename: Patrick M
authors.initials: PM
authors.lastname: MacLeod
authors.forename: Siu-Li
authors.initials: SL
authors.lastname: Yong
authors.forename: Malgorzata J M
authors.initials: MJ
authors.lastname: Nowaczyk
authors.forename: Patrice
authors.initials: P
authors.lastname: Eydoux
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D019457:Chromosome Breakage; D002874:Chromosome Mapping / Q000379:methods*; D022202:Chromosomes, Artificial, Bacterial; D002896:Chromosomes, Human, Pair 6; D015331:Cohort Studies; D005145:Face / Q000002:abnormalities; D005260:Female; D006554:Hernia, Umbilical / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D047928:Premature Birth; D017384:Sequence Deletion; D055815:Young Adult