Pseudotrisomy 13: Clinical findings and genetic implications

Solveig Schulz, Claudia Gerloff, Thomas Kalinski, Christian Mawrin, Dimitrios Kanakis, Dorothea Haas, Heidi Hahn, Peter Wieacker

Research output: Contribution to journalArticlepeer-review

Abstract

The combination of holoprosencephaly, postaxial polydactyly, and normal karyotype has been termed pseudotrisomy 13 syndrome. Here, we report the prenatal diagnosis of pseudotrisomy 13 in three siblings suggesting autosomal recessive inheritance of this syndrome. Clinical overlap with hydrolethalus syndrome, Smith-Lemli-Opitz syndrome, Meckel syndrome, and Pallister-Hall syndrome is discussed.

Original languageEnglish
Pages (from-to)501-503
Number of pages3
JournalFetal Diagnosis and Therapy
Volume20
Issue number6
DOIs
Publication statusPublished - Nov 2005

Keywords

  • Autosomal recessive inheritance
  • Holoprosencephaly
  • Polydactyly
  • Pseudotrisomy 13

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