Open AccessSister chromatid exchange analysis in the Prader‐Labhart‐Willi syndrome
Author(s) -
Butler Merlin G.,
Jenkins Bonnie B.,
Opitz John M.,
Reynolds James F.,
Ledbetter David H.
Publication year - 1987
Publication title -
american journal of medical genetics
Language(s) - English
Resource type - Journals
eISSN - 1096-8628
pISSN - 0148-7299
DOI - 10.1002/ajmg.1320280406
Subject(s) - sister chromatid exchange , genetics , sister chromatids , biology , medicine , chromosome , dna , gene
Abstract The number of sister chromatid exchanges (SCE) and cell kinetics in lymphocytes were investigated from 16 Prader‐Lab‐hart‐Willi syndrome (PLWS) patients [8 with 15ql2 deletion (4 females, 4 males; x age = 12.9y with age range of 0.3 to 24y), and 8 non‐deletion (2 females, 6 males; x age = 16.8y with age range of 5 to 26y)], 18 parents of PLWS patients and age‐matched control individuals. The average SCE frequency and standard deviation in PLWS patients with and without the chromosome 15 deletion was 6.6 ± 1.3 and 6.2 ± 0.8, respectively. Therefore no significant difference in SCE frequency or replicative index was found between the two PLWS subgroups. There was also no significant difference in SCE frequency or replicative index between the 16 PLWS patients and age‐matched control subjects. The average SCE frequency and standard deviation in 8 fathers who were previously identified to have donated the chromosome 15 with the deletion in the child was 7.5 ± 1.2, which was not significantly different from 8.5 ± 2.0 seen in age‐matched control subjects. There was also no significant difference in the SCE frequency or replicative index of 18 parents of PLWS patients with and without the chromosome 15 deletion when compared with age‐matched control subjects.