Phenotype and genotype in a taiwanese girl with sotos syndrome

HIGHLIGHTS

  • who: Wei-De Lin and colleagues from the Department of Medical Research, China Medical University Hospital, Taichung, Taiwan have published the Article: Phenotype and Genotype in a Taiwanese Girl with Sotos Syndrome, in the Journal: (JOURNAL)
  • what: The authors report on a 5-year-old Taiwanese girl with a phenotype of psychological developmental delay and mild macrocephaly with a high broad forehead and identified a de novo 1.86-Mb microdeletion at 5q35.2-q35.3 associated with Sotos syndrome.
  • how: Array-CGH was performed on the patient`s DNA extracted from peripheral . . .

     

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