Single Cell Biology

Sáenz Farret M

Publications

• Case Report
  Parkinson's Disease in a Patient with 22q11.2 Deletion Syndrome: The Relevance of Detecting Mosaicisms by Means of Cell-By-Cell Evaluation Techniques
  Author(s): Perandones C, Farini VL, Pellene LA, Sáenz Farret M, Cuevas SM, Micheli FE and Radrizzani M Perandones C, Farini VL, Pellene LA, Sáenz Farret M, Cuevas SM, Micheli FE and Radrizzani M
  
  We report the case of a male patient from an Ashkenazi Jewish ethnic group with a history of midline defects (congenital heart disease, high-arched palate and bifid uvula). At the age of 46 years, he came to our center complaining of resting tremor, and a neurological examination concluded Parkinson’s disease. As a part of his approach, genetic evaluation was performed. Fluorescence in-situ hybridization (FISH) confirmed a mosaicism of a 22q deletion in 24% of the analyzed blood cells. Also, immunohistochemical studies were performed on samples from the minor salivary glands using a SNCA antibody. Intense SNCA immunoreactive proï¬Â�les were obtained for cells from the salivary glands of the patient. This is, to our knowledge, the first description of the association of a mosaicism of a 22q11.2 microdeletion syndrome with Parkinson&r.. View More»
  DOI: 10.4172/2168-9431.1000123

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