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45,X/47,XYY mosaicism in a patient with Turner's syndrome

✍ Scribed by Rubén Lisker; Lizbeth Ruz; Osvaldo Mutchinick


Publisher
Springer
Year
1978
Tongue
English
Weight
135 KB
Volume
41
Category
Article
ISSN
0340-6717

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✦ Synopsis


A patient with classical Turner's syndrome and a 45,X/47,XYY mosaicism is described. Each cell line was present in approximately equal amounts in the peripheral blood lymphocytes, while in fibroblasts derived from skin and both gonads only the 45,X karyotype was present. It is suggested that the latter fact is responsible for the patient not having the mixed gonadal dysgenesis syndrome or tumor formation in both streak gonads.


📜 SIMILAR VOLUMES


Ullrich-Turner phenotype with unusual ma
✍ Franceschini, Piergiorgio; Guala, Andrea; Camerano, Patrizia; Franceschini, Dani 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 3 views

We report on a girl with Ullrich-Turner phenotype and 45,W47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the left sh