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 chrom...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-09-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1762 |