Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.
Alla Nikolaevna SemyachkinaE Y VoskoboevaE Y ZakharovaE A NikolaevaI V KanivetsA D KolotiiG V BaydakovaM N KharabadzeR G KuramagomedovaN V MelnikovaPublished in: BMC medical genetics (2019)
Thus, the girl confirmed comorbidity - Turner syndrome with a partial deletion of the long arm of chromosome X of paternal origin, affecting the Xq28 region (localization of the IDS gene), and Hunter syndrome due to a deletion of the IDS gene inherited from the mother. The structural defect of chromosome X in the girl confirmed the hemizygous state due to the mutation in the IDS gene, which has led to the formation of the clinical phenotype of Hunter syndrome.