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Autor:
Adrian Hrusca, Mariela S. Militaru, Andreea Liana Răchişan, Aurel Bizo, Alexandru Stefan Niculae, Bianca Pop, Ioana Tintea
Publikováno v:
Clujul Medical
We describe the case of a 6-year-old boy with both fragile X syndrome and Robertsonian Translocation (45, XY, der (13; 22) (q10; q10)). This is the first reported case of a patient with fragile X syndrome with this Robertsonian translocation. Facial