Three cases of sex chromosome mosaicism with a nonfluorescent Y
β Scribed by K. Madan; L. Gooren; J. Schoemaker
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 692 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
Clinical and cytogenetic findings in three patients mosaic for sex chromosomes (45,X0/46,XY; 45,X0/46,XY/46,XYq-, and 45,X0/46,XY/46,XYY), each with a nonfluorescent Y, are presented. Hypotheses for the origin and effect of these chromosome constitutions are discussed.
π SIMILAR VOLUMES
Hae III restriction patterns are reported in three cases with normal-sized but nonfluorescent Y chromosomes (XO/XYnf mosaics). The 3.4- and 2.1-kb fragment classes of reiterated Y chromosomal DNA were not present in the three cases. Mechanisms leading to these findings are discussed.
A newborn female infant presented with abnormalities of the external genitalia including a 3 Γ 1 cm phallic structure, a perineal urethral opening, bifid scrotum, and a single urogenital opening. Peripheral blood karyotype was 45,X[81]/46,X,+r(Y)[19], however, there were no signs of Ullrich-Turner s