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The behavior of sex chromosomes in two human X-autosome translocations: failure of extensive X-inactivation spreading.
Solari, A J; Rahn, I M; Ferreyra, M E; Carballo, M A.
Afiliação
  • Carballo, M A; Centro de Investigaciones en Reproducción (CIR), Facultad de Medicina, Universidad de Buenos Aires, Paraguay 2155, (1121) Buenos Aires, Argentina. ajsolari@mail.retina.ar.
Biocell ; Biocell;25(2): 155-66, 2001 Aug.
Article em En | BINACIS | ID: bin-39433
Biblioteca responsável: AR1.1
ABSTRACT
Two patients, one adult male and one infant girl, bearing different X-autosome translocations, were studied with cytogenetical, ultrastructural and chromosome-painting techniques. The adult male, is a carrier of a reciprocal, balanced translocation involving the X and #2 chromosomes 46,Y,t(X;2) (q13;p21). This man showed infertility with spermatogenesis arrest at the spermatocyte stage. Synaptonemal complex analysis at pachytene showed the quadrivalent structure and the putative breakage points. Sex-chromatin condensation did not spread towards the autosomal regions of the quadrivalent. The female infant showed diminished body growth and multiple somatic anomalies. She is a 45,Xp-,t(X;21)(p11;p13) carrier, an unbalanced translocation involving chromosomes X and #21, which leads to a monosomy of almost all Xp. The translocated #21 is practically complete, and its centromere is the active one in the rearranged product. The analysis of interphase nuclei with the X-centromere probe shows that the Xq region of the rearranged chromosome is the late -replicating and inactive element. However, X-inactivation does not spread to the attached #21, as shown by the R-banding pattern. Thus, both in the male adult and in the female infant there is a barrier to the spreading effect of X-chromosome inactivation, which is probably due to different mechanisms.
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Coleções: 06-national / AR Base de dados: BINACIS Idioma: En Revista: Biocell Ano de publicação: 2001 Tipo de documento: Article País de publicação: Argentina
Buscar no Google
Coleções: 06-national / AR Base de dados: BINACIS Idioma: En Revista: Biocell Ano de publicação: 2001 Tipo de documento: Article País de publicação: Argentina