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Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation

✍ Scribed by Chih-Ping Chen; Shuan-Pei Lin; Fuu-Jen Tsai; Schu-Rern Chern; Wayseen Wang

Book ID
116471174
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
225 KB
Volume
89
Category
Article
ISSN
1556-5653

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45,X/47,XYY mosaicism in a patient with
45,X/47,XYY mosaicism in a patient with Turner's syndrome
✍ RubΓ©n Lisker; Lizbeth Ruz; Osvaldo Mutchinick πŸ“‚ Article πŸ“… 1978 πŸ› Springer 🌐 English βš– 135 KB

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 lat