Pseudotrisomy 13: Clinical Findings and Genetic Implications

@article{Schulz2005Pseudotrisomy1C,
  title={Pseudotrisomy 13: Clinical Findings and Genetic Implications},
  author={S Schulz and Claudia Gerloff and Thomas Kalinski and Christian Mawrin and Dimitrios Kanakis and Dorothea Haas and Heidi Ann Hahn and Peter F. Wieacker},
  journal={Fetal Diagnosis and Therapy},
  year={2005},
  volume={20},
  pages={501 - 503}
}
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. 

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