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Novel karyotype in the Ullrich-Turner syndrome—45,X/46,X,r(X)/46,X,dic(X)—investigated with fluorescence in situ hybridization

✍ Scribed by Robson, L. ;Jackson, J. ;Cowell, C. ;Sillence, D. ;Smith, A.


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
327 KB
Volume
50
Category
Article
ISSN
0148-7299

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Combined trisomy 9 and Ullrich-Turner sy
✍ Can�n, Sonia; Mutchinick, Osvaldo; Shaffer, Lisa G.; Fern�ndez, Camilo 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 2 views

Total trisomy 9 is a rare disorder with most patients dying before age 4 months. Herein, we report a 9-year-old girl with mental retardation, short stature, a peculiar face and other minor defects, who was diagnosed as having an unbalanced de novo X-autosome translocation with a 46,X,der(9)t(X;9) (q