Isodicentric X chromosome in a girl with gonadal dysgenesis.
Chromosomal analysis on a 15-year-old girl with amenorrhea and lack of secondary sexual development showed a normal X chromosome and an isodicentric X chromosome, 46,X, idic(x) (pter leads to q23::q23 leads to pter). Thus the patient has duplicated and deleted X chromosome material. There was no evidence of 45,X mosaicism. Brd U-labeling revealed the abnormal X to be late-replicating.
D000293:Adolescent; D000328:Adult; D000365:Age Determination by Skeleton; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D008297:Male; D012730:Sex Chromosomes / Q000032:analysis*; D014960:X Chromosome / Q000032:analysis*