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Genetic considerations in the patient with Turner syndrome—45,X with or without mosaicism

✍ Scribed by Quincy Zhong; Lawrence C. Layman

Book ID
116481572
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
137 KB
Volume
98
Category
Article
ISSN
1556-5653

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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

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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