Recombinant chromosome as a result of pericentric inversion of X chromosome.
A structural X chromosome abnormality was found in the karyotype of a tall patient with gonadal dysgenesis and with no extragenital anomalies. Based on her mother's karyotype, which showed a pericentric inversion of the X chromosome: 46,X,inv(X)(p22q24), as well as from G and R banding, we concluded that the abnormal X chromosome of our patient was a recombinant chromosome that had originated as a result of one crossing over in the inversion loop during gametogenesis in her mother. The recombinant X chromosome had a partial delection of Xq and a partial duplication of Xp: 46,X,rec(S),dup p,inv(X)(p22q24). After BUDR incorporation, the abnormal X chromosome of the patient and that of her mother showed a late replication. The karyotype-phenotype correlation and the nonrandom inactivation of the inverted X chromosome in the mother are discussed.
D000328:Adult; D002871:Chromosome Banding; D007446:Chromosome Inversion; D005260:Female; D006801:Humans; D007621:Karyotyping; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome