title: Somatic stability in chorionic villi samples and other Huntington fetal tissues.
abstract: We have studied different tissues from two affected fetuses with Huntington's disease (HD). In the first case the analysis was performed at 11 weeks of pregnancy; CAG repeats from seven different tissues were compared with the results obtained in the chorionic villi sample (CVS). We found 42 CAG repeats in all samples. In the second case the study was done at 12 weeks; eight tissues (including brain) were studied and compared with the CVS; in all of them, 44 CAG repeats were obtained. Our results show a somatic stability in the different analyzed tissues and suggest that mitotic instability can be a secondary consequence of neuronal degeneration and gliosis. Likewise, our data show great viability in the prenatal diagnosis (PD) of Huntington's disease using samples from any tissue.
authors.affiliation: Department of Genetics, Fundación Jimenez Díaz, Madrid, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Benitez
authors.forename: M
authors.initials: M
authors.lastname: Robledo
authors.forename: C
authors.initials: C
authors.lastname: Ramos
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: R
authors.initials: R
authors.lastname: Astarloa
authors.forename: J
authors.initials: J
authors.lastname: Garcia Yébenes
authors.forename: B
authors.initials: B
authors.lastname: Brambati
mesh_terms: D000032:Abortion, Therapeutic; D000328:Adult; D015193:Chorionic Villi Sampling; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D005333:Fetus / Q000737:chemistry*; D014644:Genetic Variation; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000196:embryology / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D012091:Repetitive Sequences, Nucleic Acid