Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients.
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.
Wang
Jia-Chi
JC
Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada. wangj@hhsc.ca
Dang
Linda
L
Lomax
Brenda
B
Turner
Lesley
L
Shago
Mary
M
Teebi
Ahmad S
AS
Klatt
Regan
R
MacLeod
Patrick M
PM
Yong
Siu-Li
SL
Nowaczyk
Malgorzata J M
MJ
Eydoux
Patrice
P
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