Brazilian Journal of Genetics
versión impresa ISSN 0100-8455
MULTANI, Asha S. et al. Deletion/inversion in the X-chromosome and increased telomeric associations in a female with primary amenorrhea. Braz. J. Genet. [online]. 1997, vol.20, n.3 ISSN 0100-8455. http://dx.doi.org/10.1590/S0100-84551997000300025.
We describe a new case of a partial interstitial deletion and inversion of the long arm of the X-chromosome associated with a high incidence of telomeric associations in an 18-year old female who showed underdeveloped secondary sex characteristics, including small breasts and primary amenorrhea. Her karyotype was considered to be 46,X,del(Xq13 ® q22)inv(X)(q23-q27). The buccal mucosal cells showed absence of a typical Barr body, and the 5-bromo-2-deoxyuridine incorporation studies revealed that neither the normal X-nor the abnormal X-chromosome was late replicating. The case is being presented for its extreme rarity