The behavior of sex chromosomes in two human X-autosome translocations: failure of extensive X-inactivation spreading
Biocell
;
25(2): 155-166, Aug. 2001.
Artículo
en Inglés
| LILACS
| ID: lil-335878
RESUMO
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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Índice:
LILACS (Américas)
Asunto principal:
Translocación Genética
/
Cromosoma X
/
Cromosomas Humanos Par 21
/
Compensación de Dosificación (Genética)
Límite:
Adulto
/
Child, preschool
/
Femenino
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Biocell
Asunto de la revista:
Clulas
Año:
2001
Tipo del documento:
Artículo
País de afiliación:
Argentina
Institución/País de afiliación:
Hospital A. Posadas/AR
/
Universidad de Buenos Aires/AR
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