Autosomal folate sensitive fragile sites in normal and mentally retarded individuals in Greece
Φόρτωση...
Ημερομηνία
Συγγραφείς
Mavrou, A.
Syrrou, M.
Tsenghi, C.
Metaxotou, C.
Τίτλος Εφημερίδας
Περιοδικό ISSN
Τίτλος τόμου
Εκδότης
Περίληψη
Τύπος
Είδος δημοσίευσης σε συνέδριο
Είδος περιοδικού
peer-reviewed
Είδος εκπαιδευτικού υλικού
Όνομα συνεδρίου
Όνομα περιοδικού
Am J Med Genet
Όνομα βιβλίου
Σειρά βιβλίου
Έκδοση βιβλίου
Συμπληρωματικός/δευτερεύων τίτλος
Περιγραφή
The frequencies of autosomal folate sensitive fragile sites were compared in populations of mentally retarded fra(X) negative (N = 220) and normal children (N = 76) in Greece. In addition, the frequency of autosomal fragile sites was studied in 20 known fra(X) children in order to test if the fra(X) syndrome is associated with general chromosome instability. The frequencies of both common and rare autosomal fragile sites did not differ significantly between the mentally retarded and the normal children, although the rate of expression was considerably higher in the retarded group. Autosomal fragile sites were not increased in the fra(X) patients. Fra(3)(p14) was by far the most frequent one in all groups. The frequency of fra(6)(q26) was found to be considerably higher among the mentally retarded children, this difference being almost statistically significant. Further cytogenetic studies of normal and retarded individuals are required in order to elucidate this point further.
Περιγραφή
Λέξεις-κλειδιά
Adolescent, Child, Child, Preschool, Chromosome Fragile Sites, *Chromosome Fragility, Chromosomes, Human/*drug effects/ultrastructure, Female, Folic Acid/*pharmacology, Fragile X Syndrome/*genetics, Gene Frequency, Greece, Humans, Intellectual Disability/*genetics, Male
Θεματική κατηγορία
Παραπομπή
Σύνδεσμος
http://www.ncbi.nlm.nih.gov/pubmed/2018086
http://onlinelibrary.wiley.com/store/10.1002/ajmg.1320380259/asset/1320380259_ftp.pdf?v=1&t=h0diux6f&s=9e30c18945d18a8ce4d5ca79487f67247476a602
http://onlinelibrary.wiley.com/store/10.1002/ajmg.1320380259/asset/1320380259_ftp.pdf?v=1&t=h0diux6f&s=9e30c18945d18a8ce4d5ca79487f67247476a602
Γλώσσα
en
Εκδίδον τμήμα/τομέας
Όνομα επιβλέποντος
Εξεταστική επιτροπή
Γενική Περιγραφή / Σχόλια
Ίδρυμα και Σχολή/Τμήμα του υποβάλλοντος
Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής