Publication: Cytogenetic findings in 89 cases of Turner's syndrome with abnormal karyotypes
Cytogenetic findings in 89 cases of Turner's syndrome with abnormal karyotypes
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Schmid, W., Naef, E., Mürset, G., & Prader, A. (1974). Cytogenetic findings in 89 cases of Turner’s syndrome with abnormal karyotypes. Human Genetics, 24(2), 93–104. https://doi.org/10.1007/bf00283766
Abstract
Abstract
Abstract
Of 130, mostly prepubertal girls with features of Turner's syndrome, 89 had an abnormal sex chromosome complement, namely 61 X0, 11 XXqi and XO/XXqi, 8 XO/XX, 6 XO/XXr, 1 X0/XY, 1 45,XO/47,XY+ 18, and 1 XO/XXq~. 5 of 11 isochromosomes for the long X arm were of the dicentric type. Our data indicate that this type is unstable and therefore is lost from the cells more often than monocentric isoehromosomes. In XO/XX mosaics an interesting observation was made concerning the pattern size of mosaic areas in the epidermis. Mosaicism was dem
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- Schmid, Werner
- Naef, E
- Mürset, G
- Prader, A
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Citations
Schmid, W., Naef, E., Mürset, G., & Prader, A. (1974). Cytogenetic findings in 89 cases of Turner’s syndrome with abnormal karyotypes. Human Genetics, 24(2), 93–104. https://doi.org/10.1007/bf00283766
