Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1978 Feb 16;40(3):249-57.
doi: 10.1007/BF00272185.

X-X translocation in a patient with gonadal dysgenesis and the problems of phenotype-karyotype correlations

G G Mirzayants, L I Baranovskaya
Case Reports

X-X translocation in a patient with gonadal dysgenesis and the problems of phenotype-karyotype correlations

G G Mirzayants et al. Hum Genet. .

Abstract

A sex-chromatin-positive woman without stunted growth, but with primary amenorrhea, and some stigmas of pure gonadal dysgenesis had the chromosome constitution 45,X/46,Xt(X;X)(q27;q27). The abnormal chromosome formed a large Barr body and was late-labeling. The chromosome consisted of two X chromosomes attached by their long arms (end-to-end), both apparently having the partial distal deletion. Both centromeric regions showed C-staining but only one constriction. The chromosome is interpreted as an isodicentric with only one centromere functioning. Some problems of phenotype-karyotype correlations are discussed.

PubMed Disclaimer

References

    1. Am J Hum Genet. 1973 Mar;25(2):181-92 - PubMed
    1. Hereditas. 1974;76(2):259-68 - PubMed
    1. Ann Genet. 1975 Dec;18(4):243-5 - PubMed
    1. Klin Padiatr. 1975 Nov;187(6):533-7 - PubMed
    1. J Med Genet. 1965 Jun;2(2):142-55 - PubMed

Publication types