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Tetrasomy 18p: case report and review of literature

Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, fami...

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Detalhes bibliográficos
Publicado no:Appl Clin Genet
Main Authors: Bawazeer, Shahad, Alshalan, Maha, Alkhaldi, Aziza, AlAtwi, Nasser, AlBalwi, Mohammed, Alswaid, Abdulrahman, Alfadhel, Majid
Formato: Artigo
Idioma:Inglês
Publicado em: Dove Medical Press 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5811181/
https://ncbi.nlm.nih.gov/pubmed/29467581
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S153469
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