Article
A case of trisomy 12 mosaicism with pituitary malformation and polycystic ovary syndrome.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2006
Boulard S, Diene G, Barat R, Oliver I, Pienkowski C, Lacombe D, Vincent M C, Bourrouillou G, Tauber M
Abstract excerpt
We report the case of a patient (followed from birth to 15 years) presenting with trisomy 12 mosaicism, and focus on the endocrine phenotype associating a pituitary malformation and ovarian abnormalities. We describe the dysmorphic features and their evolution, the growth retardation and ovarian symptoms. Complete growth hormone deficiency was confirmed on auxological data, stimulation test and was related to...
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