Balanced reciprocal (X;9) translocation in a girl with primary amenorrhea.
| Autor: | Leddet-Chevallier I, Reid RA, Carrel RE, Sparkes RS |
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| Jazyk: | angličtina |
| Zdroj: | Annales de genetique [Ann Genet] 1981; Vol. 24 (3), pp. 162-4. |
| Abstrakt: | An 18-year-old girl with an X-autosome translocation t(X;9)(q22;q12) had primary amenorrhea without other manifestations of the Turner syndrome. X-replication and GALT activity studies showed that both of the two translocated X fragments and adjacent autosomal segments are active. An explanation is offered to account for the relationship between the abnormal karyotype and the phenotype. It is suggested that a position effect and/or an effect exerted between reactivation of the X chromosome and oocyte meiosis may be important in the pathogenesis of the amenorrhea. |
| Databáze: | MEDLINE |
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