title: Analysis of chromosome breakage in the Prader-Labhart-Willi syndrome.
abstract: Analysis of chromosome breakage with mitomycin C (MMC) and folate-deficient culture conditions was undertaken on 18 Prader-Labhart-Willi syndrome (PLWS) patients (10 with 15q12 deletion [5 females, 5 males; mean age = 17.9 yr, range of 0.3 to 40 yr] and 8 without deletion [2 females, 6 males; mean age = 18.6 yr, range of 7 to 26 yr]), 21 PLWS parents with an average age of 39.2 yr and a range of 25 to 70 yr (12 fathers [8 fathers of PLWS children with the 15q12 deletion and 4 fathers of PLWS children with normal chromosomes] and 9 mothers [4 mothers of PLWS children with the 15q12 deletion and 5 mothers of PLWS children with normal chromosomes]), and age-matched control individuals. There was no difference between PLWS patients and control individuals in the number of chromosome and chromatid aberrations in cells grown at 48 and/or 96 hr in either 20 ng/ml or 50 ng/ml of MMC or between the PLWS parents and control individuals in cells grown in 50 ng/ml MMC for 96 hr, although a small increase (P less than 0.05) in chromosome breakage was found in cells from the total PLWS parental group compared with control individuals exposed for 48 hr in 50 ng/ml MMC. There was also no significant difference in chromosome fragile site frequency in cells grown in folate-deficient culture conditions in PLWS patients, their parents, or controls.(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee.
authors.forename: M G
authors.initials: MG
authors.lastname: Butler
authors.forename: B B
authors.initials: BB
authors.lastname: Jenkins
mesh_terms: D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility / Q000187:drug effects; D002884:Chromosomes, Human, Pair 15 / Q000187:drug effects; D005260:Female; D005492:Folic Acid / Q000494:pharmacology; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D016685:Mitomycin; D008937:Mitomycins / Q000494:pharmacology; D011218:Prader-Willi Syndrome / Q000235:genetics*; D012854:Sister Chromatid Exchange / Q000187:drug effects
chemical_list: D008937:Mitomycins; D016685:Mitomycin; D005492:Folic Acid