Turner's syndrome with a duplication‐deficiency X chromosome derived from a maternal pericentric inversion X chromosome
- 1 March 1979
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 15 (3) , 259-266
- https://doi.org/10.1111/j.1399-0004.1979.tb00977.x
Abstract
A 31 yr old woman of short stature with severe oligomenorrhea had a duplication-deficiency X chromosome, 46,X,rec(X)dup q,inv(X)(p22q11), inherited from her mother who carried a pericentric inversion X chromosome, 46,X,inv(X)(p22q11). By a combination of autoradiography and BUdR [bromodeoxyuridine] incorporation, the duplication-deficiency X chromosome was always the inactive and late replicating one. In the cultured fibroblasts with the recombinant X chromosome, some of the cells had bipartite X chromatin bodies. In the mother with inv(X), the normal and the inverted X chromosome were randomly inactivated.Keywords
This publication has 10 references indexed in Scilit:
- A fetus with recombinant of chromosome 8 inherited from her carrier fatherHuman Genetics, 1978
- Structural X-chromosome abnormality in a female with gonadal dysgenesisHuman Genetics, 1975
- Sur quatre nouveaux cas de translocation du chromosome X chez l'hommeHuman Genetics, 1975
- Abnormal X chromosomes in man: Origin, behavior and effectsHumangenetik, 1974
- Familial X/X translocation:t(X;X)(p22;q13)Cytogenetic and Genome Research, 1974
- X/X translocation in a patient with Turner's syndromeHumangenetik, 1973
- A simple technique for demonstrating centromeric heterochromatinExperimental Cell Research, 1972
- Gonadendysgenesie mit ungewöhnlicher Strukturanomalie eines X-Chromosoms (45,X/46,XXq+)Human Genetics, 1972
- The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of manChromosoma, 1972
- Karyotype-phenotype Correlations in Gonadal Dysgenesis and Their Bearing on the Pathogenesis of MalformationsJournal of Medical Genetics, 1965