Sexual development of patients with isochromosomes for the long arm of the X chromosome
- 1 August 1981
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 58 (2) , 176-178
- https://doi.org/10.1007/bf00278706
Abstract
The sexual development of 14 girls with non-mosaic monocentric 46,X,iXq karyotype was studied. Seven out of eight girls were found to have immature secondary sexual characteristics and amenorrhoea, a finding greatly contrasting with that in Triplo-X girls. The relative ineffectiveness of the isochromosome Xq in maintaining fertility may be due to the absence of one short arm, which probably also carries a gonadal determinant. Alternatively, the presence of two inactivation sites on one isochromosome may render the gonadal determinants inactive at an important stage in gonadal development.Keywords
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