title: Distribution of autosomal fragile sites in specimens cultured for prenatal fragile X diagnosis.
abstract: We reviewed the distribution of autosomal fragile sites (FS) and spontaneous chromosome breaks or gaps (CB) at chromosome locations other than those recognized as FS from 100 amniotic fluid samples (AF), 19 chorionic villus samples (CVS), and 5 percutaneous umbilical blood samples (PUBS) referred for fragile X [fra(X)] analysis. We present data on the degree of expression of autosomal fragility in AF, CVS, and PUBS samples, and the relationship between degree of expression and induction system. The most common observed FS were: 3p14, 9p32, and 6q26 in AF; 9q32, 3q27, and 8q22 in CVS; and 3p14, Xq22, and 16q23 in PUBS cases. Distribution of FS and CB, when compared by induction system, was not found to be identical. Our data also indicate that the presence of any particular FS cannot be used as an indicator for the effectiveness of the fra(X) induction system in prenatal samples.
authors.affiliation: Department of Cytogenetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314.
authors.forename: M S
authors.initials: MS
authors.lastname: Krawczun
authors.forename: E C
authors.initials: EC
authors.lastname: Jenkins
authors.forename: C J
authors.initials: CJ
authors.lastname: Duncan
authors.forename: S L
authors.initials: SL
authors.lastname: Stark-Houck
authors.forename: S
authors.initials: S
authors.lastname: Kunaporn
authors.forename: C
authors.initials: C
authors.lastname: Schwatz-Richstein
authors.forename: H
authors.initials: H
authors.lastname: Gu
authors.forename: W T
authors.initials: WT
authors.lastname: Brown
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000648:ultrastructure; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D005260:Female; D005312:Fetal Blood / Q000166:cytology; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis