A 31-year-old female patient with short stature, signs of gonadal dysgenesis, and slight Turner signs is described with a mosaic 45,XO/46,XX del (X) (qter leads to p11) determined with trypsin Giemsa-banding and C-staining. BUdR incorporation indicated the deleted X to be late replicating.
Partial short arm deletion of the X chromosome 46,X,del(X)(qter→p21:)
✍ Scribed by Mary Käosaar; A. -V. Mikelsaar
- Publisher
- Springer
- Year
- 1980
- Tongue
- English
- Weight
- 467 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
We report on a terminal deletion of the long arm of chromosome 3 [46,XX,de1(3)(q27+qter)l in a female newborn infant who died 45 hours after delivery and had multiple congenital abnormalities including bilateral anophthalmia, congenital heart disease, and abnormal genitalia. The findings are compare
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.