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:

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 distal 13q regions, and also as a mosaic. Mosaic trisomy 13 shows a highly variable phenotype, displaying from mild to severe affectations. We present a 12-year-old Mexican female patient with intellectual disability, dysmorphic features, polymenorrhea, and long survival, whose initial cytogenetic study referred to a small supernumerary marker chromosome.

Methods

GTG bandi

SUBMITTER: Moran-Barroso VF 

PROVIDER: S-EPMC8457692 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature