Summary
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.
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Hodgson, S., Chiu, D. & Polani, P. Sexual development of patients with isochromosomes for the long arm of the X chromosome. Hum Genet 58, 176–178 (1981). https://doi.org/10.1007/BF00278706
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DOI: https://doi.org/10.1007/BF00278706