Late-replicating ring X-chromosomes identified by r-banding after BrdU pulse
✍ Scribed by A. Hagemeijer; J. Hoovers; I. Hasper-Voogt; T. Ruhe-Zurcher; D. Bootsma
- Book ID
- 104704416
- Publisher
- Springer
- Year
- 1976
- Tongue
- English
- Weight
- 896 KB
- Volume
- 34
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
A detailed chromosome analysis was carried out in 3 patients presenting the mosaicism, 45, XO/46,Xr(X). In 2 patients, the r(X) chromosome was found to be late-replicating using R-banding techniques after a BrdU pulse administered 6 h before harvesting the leukocyte culture. The clinical symptomatology presents the great variability already observed in association with this karyotype. Only a short stature was common to the 3 patients. Case 1 is a 6-year-old girl with moderate mental retardation; case 2 is a 16-year-old girl with primary amenorrhea and absence of secondary sexual characteristics; case 3 is a 24-year-old woman whose puberty and normal sexual development occurred at age 17.