Pontocerebellar Hypoplasia - 46,XY Disorder of Sex Development
Presentation
To present the case of a child with microcephaly, PCH and West syndrome, in which the genetic study allowed to make the diagnosis of a deletion on chromosome X. [runa.sergas.gal]
Etiology
Given the wide differential diagnosis proposed at the PCH, new cytogenetic techniques have improved the classification of HPC and in some cases establish their etiology, so in these cases can provide appropriate genetic counseling to families. [runa.sergas.gal]