Abstract
A 35-year-old female patient with oligomenorrhoea had a deletion of the long arm of the X chromosome. The breakpoint at band q23 caused infertility in spite of excessive pituitary stimulation. The aberrant X chromosome was inactivated in all cells analysed.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bocian M., Krmpotic E., Szego K., Rosenthal I. M. Somatic stigmata of Turner's syndrome in a patient with 46,XXq-. J Med Genet. 1971 Sep;8(3):358–363. doi: 10.1136/jmg.8.3.358. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Boczkowski K., Mikkelsen M. Fluorescence and autoradiographic studies in patients with Turner's syndrome and 46,XXp- and 46,XXq- karyotypes. J Med Genet. 1973 Dec;10(4):350–355. doi: 10.1136/jmg.10.4.350. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Branković S., Laća Z., Dramusić V., Ivanović M., Morić-Petrović S. A case of long arm deletion of the X chromosome in a patient with secondary amenorrhea. Hum Genet. 1979 Apr 17;48(1):139–142. doi: 10.1007/BF00273289. [DOI] [PubMed] [Google Scholar]
- Dutrillaux B., Laurent C., Couturier J., Lejeune J. Coloration des chromosomes humains par l'acridine orange après traitement par le 5 bromodéoxyuridine. C R Acad Sci Hebd Seances Acad Sci D. 1973 Jun 13;276(24):3179–3181. [PubMed] [Google Scholar]
- Hecht F., Jones D. L., Delay M., Klevit H. Xq- Turner's syndrome: reconsideration of hypothesis that Xp- causes somatic features in Turner's syndrome. J Med Genet. 1970 Mar;7(1):1–4. doi: 10.1136/jmg.7.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kaiser P., Zabel B., Hansen S., Daume E. Short arm deletion of an X chromosome, 46,XXp-. Hum Genet. 1976 Apr 15;32(1):89–100. doi: 10.1007/BF00569982. [DOI] [PubMed] [Google Scholar]
- Mattei M. G., Mattei J. F., Vidal I., Giraud F. Structural anomalies of the X chromosome and inactivation center. Hum Genet. 1981;56(3):401–408. doi: 10.1007/BF00274702. [DOI] [PubMed] [Google Scholar]
- Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971 Oct 30;2(7731):971–972. doi: 10.1016/s0140-6736(71)90287-x. [DOI] [PubMed] [Google Scholar]
- Summitt R. L., Tipton R. E., Wilroy R. S., Jr, Martens P. R., Phelan J. P. X-autosome translocations: a review. Birth Defects Orig Artic Ser. 1978;14(6C):219–247. [PubMed] [Google Scholar]
- Therman E., Sarto G. E., Patau K. Center for Barr body condensation on the proximal part of the human Xq: a hypothesis. Chromosoma. 1974 Jan 29;44(4):361–366. doi: 10.1007/BF00284895. [DOI] [PubMed] [Google Scholar]
- de la Chapelle A., Schröder J., Haahtela T., Aro P. Deletion mapping of the human X chromosome. Hereditas. 1975;80(1):113–120. doi: 10.1111/j.1601-5223.1975.tb01505.x. [DOI] [PubMed] [Google Scholar]