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Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype

โœ Scribed by R. Veitia; A. Ion; S. Barbaux; M. A. Jobling; N. Souleyreau; K. Ennis; H. Ostrer; M. Tosi; T. Meo; J. Chibani; M. Fellous; K. McElreavey


Publisher
Springer
Year
1997
Tongue
English
Weight
104 KB
Volume
99
Category
Article
ISSN
0340-6717

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Here we describe a fetus in whom a cystic hygroma was detected by ultrasound during the second trimester. Autopsy demonstrated a female fetus with manifestations of Ullrich-Turner syndrome, including gonadal dysgenesis, generalized lymphedema, and preductal aortic coarctation. Surprisingly, the kary