Isochromosome for the short arm of X: a human mosaic 45,x/46,XXpi.
An 18 year female patient with short stature, amenorrhoea and poorly developed secondary sexual characteristics, has subnormal oestrogen excretion and increased levels of plasma gonadotrophin. Laparoscopy revealed streak ovaries. A reduced number of buccal mucosal cells showed positive sex chromatin. Chromosome studies of blood lymphocytes indicated mosaicism: the major cell line was characterized by an isochromosome for the X short arm, 46,XXpi; the minor cell line had a single X chromosome, 45,X.
D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics; D001835:Body Weight; D002869:Chromosome Aberrations; D004967:Estrogens / Q000652:urine; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007621:Karyotyping; D007986:Luteinizing Hormone / Q000097:blood; D009030:Mosaicism; D012728:Sex Chromatin; D012730:Sex Chromosomes
D004967:Estrogens; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone