Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18 |
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Authors: | Piergiorgio Franceschini Andrea Guala Patrizia Camerano Daniele Franceschini Maria Paola Vardeu Federico Signorile |
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Abstract: | We report on a girl with Ullrich-Turner phenotype and 45,X/47,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 showing a typical Ullrich-Turner syndrome appearance. This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not show any stigmata of trisomy 18. © 1996 Wiley-Liss, Inc. |
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Keywords: | mosaic Ullrich-Turner syndrome mosaic trisomy 18 syndrome mosaicism 45,X/47,XX,+18 |
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