A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism—a case report and literature review of the partial 16p13.3 trisomy syndrome

HIGHLIGHTS

• who: Magdalena Socha from the Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka, u2011, Poznau0144, Poland have published the paper: A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphismu2014a case report and literature review of the partial 16p13.3 trisomy syndrome, in the Journal: (JOURNAL)
• what: The authors report on the patient presenting with psychomotor retardation femoral hypoplasia and some features of the partial 16p trisomy syndrome who carries a complex de novo terminal 16p13.3 microduplication with an overlapping . . .
  

   

  

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