Deletion of the short arm of the X chromosome: A hereditary form of Turner syndrome

Zeitschrift für Kinderheilkunde - Tập 151 - Trang 893-894 - 1992
G. Massa1, M. Vanderschueren-Lodeweyckx1, J. -P. Fryns2
1Department of Paediatrics, University of Leuven, Leuven, Belgium
2Division of Human Genetics, Department of Human Biology, University of Leuven, Leuven, Belgium

Tóm tắt

In the mothers of two girls with Turner syndrome due to a deletion of the short arm of an X chromosome, the same chromosomal anomaly was detected. Both mothers and daughters had short stature but normal pubertal development. Short parents and normal pubertal development do not exclude Turner syndrome in a girl with small stature.

Tài liệu tham khảo

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