Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event.

Abstract excerpt

BACKGROUND: Trisomy 13 or Patau syndrome has a prevalence of 1:10,000-20,000 and is characterized by microcephaly, microphthalmia, polydactyly, as well as other dysmorphic features and malformations, with a patient survival of 13% in the first year. Trisomy 13 presents either as a free chromosome 13 trisomy or associated with a chromosomal Robertsonian translocation, as partial trisomy affecting proximal or...

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