Fertility in patients with X chromosome deletions
โ Scribed by J. P. Fryns; A. Kleczkowska; P. Petit; H. van den Berghe
- Book ID
- 119839335
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 235 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0009-9163
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The X chromosomes of individuals with isolated steroid sulphatase deficiency (X-linked ichthyosis) from ten families were studied by flow karyotype analysis. In four of the families, a small but significant reduction in the relative fluorescence of the X chromosome was detected consistent with a del
A partial long arm deletion of one X chromosome was observed in a patient with secondary amenorrhea and with no features of Turner's syndrome. It was shown that the deleted X chromosome was the inactivated one in all metaphases of the lymphocyte culture and of the tissue culture from gonadal biopsy.