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Tetrasomy and pentasomy of the X chromosome
European Journal of Pediatrics, 2011We describe a newborn girl with a life-threatening laryngomalacia and extreme hypotonia. Genetic analysis revealed the very rare genetic condition mosaicism of 48,XXXX and 49,XXXXX (50/50). We here state that the degree of early hypotonia constitutes an important early prognostic feature in this syndrome.
Schoubben, Edith+5 more
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