Chromosomal anomaly in a female patient with anterior lenticonus.
Anterior lenticonus is reported in a 20-year-old female who had perceptive deafness, albuminuria, microscopic haematuria, pyuria, primary amenorrhoea, aplasia of the uterus and poorly developed external genitalia. Chromosomal study revealed 45 XO pattern. It is suggested that the gene for anterior lenticonus is recessive and is carried in the short term of the X chromosome.
D000328:Adult; D005260:Female; D006801:Humans; D007908:Lens, Crystalline / Q000002:abnormalities*; D009394:Nephritis, Hereditary / Q000235:genetics; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000235:genetics; D014960:X Chromosome