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Echocardiography, electrocardiogram and lung function testing were normal.
Results of hormonal testing were normal, except for prolactin which was elevated at 109 ng/dl.
Magnetic resonance imaging brain and cervical spine, DYT1, and PNKD gene testing were normal.
Karyotype, microarray, FMR1 gene analysis, MECP2 sequencing, and MECP2 deletion/duplication testing were normal.
Her chest radiographs and lung function testing were normal, bronchial provocation with histamine did not demonstrate the existence of airway hyperresponsiveness. Cell differentials in the induced sputum consisted of 60.5% of monocytes, 37.0% of lymphocytes, 2.0% of neutrophils and 0.5% of eosinophils.
Our results of cognitive testing were normal, but tests of memory revealed a markedly below-average performance: the patient's general memory index was at the 13th percentile, his verbal memory at the 19th percentile, his visual memory at the 14th percentile, and his learning index at the 19th percentile.
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Visual field testing was normal.
Fragile X testing was normal.
Sensory testing was normal in the upper limbs.
The blood tests were normal.
He was evaluated and all preliminary tests were normal.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com