This paper presents a female patient with primary amenorrhea in whose karyotype an aberrant X chromosome was present. The chromosome resulted from the fusion of two X chromosomes at distal parts of the long arm and from the loss of the segment q24 leads to qter. The clinical and cytogenetic picture
Fusion of the short arms of one X chromosome in a patient with gonadal dysgenesis
β Scribed by U. Ruthner; E. Golob
- Publisher
- Springer
- Year
- 1974
- Tongue
- English
- Weight
- 86 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0340-6717
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In this report we describe a deletion of the short arm of the X chromosome in a 16-year-old female with gonadal dysgenesis. The breakpoint was localized by BUdR treatment and acridine orange staining in region 2, band 2. Of the examined cells, 3% showed an early replication of the deleted X chromoso
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.