title: Is Rett syndrome a chromosome breakage syndrome?
abstract: Lymphocytes from venous blood from 15 girls with Rett syndrome (RTS), 7 girls with RTS "forme fruste," and 46 unrelated control females were examined. All subjects had a normal karyotype using RHG and RTBG technique. The frequency of gaps and breaks was determined for each group. A significantly higher (P < 0.01) frequency of chromosome breakage was observed in RTS subjects compared to controls. This work suggests that an increased tendency to chromosome breakage may be part of a genetically determined disorder in RTS patients.
authors.affiliation: Laboratoire de Cytogénétique, Hôpital Saint Vincent de Paul, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Telvi
authors.forename: M
authors.initials: M
authors.lastname: Leboyer
authors.forename: C
authors.initials: C
authors.lastname: Chiron
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: G
authors.initials: G
authors.lastname: Ponsot
mesh_terms: D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002648:Child; D002871:Chromosome Banding; D002873:Chromosome Fragility; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D005260:Female; D006801:Humans; D015518:Rett Syndrome / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics