RESUMO
To assess the frequency of cytogenetic abnormalities in children with autism spectrum disorders (ASDs), routine G-banded cytogenetic analyses and FISH studies to rule out 15q11.2 and 17p11.2 duplications were performed on 49 children with ASDs. Blood samples were further studied using a complete set of subtelomeric FISH probes. Routine chromosome study showed that one child had a small duplication of chromosome 5: 46,XY,dup(5)(p?14.2p?15.1). Another child had an interstitial duplication of the Prader-Willi and Angelman syndrome critical region of chromosome 15, detected by FISH analysis. The detection of these two cases underscores the importance of obtaining routine chromosome and 15q11-q13 FISH analyses in children with ASDs. No instance of 17p11.2 duplication was observed. Subtelomeric analysis did not reveal abnormalities in any of the subjects.
Assuntos
Transtorno Autístico/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 15/genética , Cromossomos Humanos Par 17/genética , Adolescente , Adulto , Transtorno Autístico/patologia , Criança , Pré-Escolar , Bandeamento Cromossômico , Saúde da Família , Feminino , Duplicação Gênica , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Exame Físico , Telômero/genéticaRESUMO
Reports of X chromosome translocations, as primary chromosomal changes associated with hematologic disorders, remain relatively uncommon. Herein, we report the detection, by conventional cytogenetic methods, of a cytogenetically identical t(X;20) in two different patients with hematologic disorders (probable myelodysplasia and polycythemia vera/acute myelocytic leukemia). In both cases, this translocation appeared as the primary clonal chromosome abnormality, with breakpoints occurring in the long arms of both the X chromosome and chromosome 20 (Xq13.1 and 20q13.3, respectively). Further characterization and comparison of the translocation chromosome products of these two cases by use of fluorescence in situ hybridization techniques is also described. Similar previously reported cytogenetically cases and the potential that this specific rearrangement may represent a nonrandom chromosomal finding are discussed.
