DELETION INVERSION IN THE X-CHROMOSOME AND INCREASED TELOMERIC ASSOCIATIONS IN A FEMALE WITH PRIMARY AMENORRHEA/

We describe a new case of a partial interstitial deletion and inversio n of the long arm of the X-chromosome associated with a high incidence of telomeric associations in an 18-year old female who showed underde veloped secondary sex characteristics, including small breasts and pri mary amenorrhea. Her karyotype was considered to be 46,X,del(Xq13 --> q22)inv(X)(q23-q27). The buccal mucosal cells showed absence of a typi cal Barr body, and the 5'-bromo-2-deoxyuridine incorporation studies r evealed that neither the normal X-nor the abnormal X-chromosome was la te replicating. The case is being presented for its extreme rarity.