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A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome
Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental retardation are a few of the commonest features observed. The cytogenetic findings also vary and may comprise a pure deletion of the entire 1...
Gespeichert in:
| Veröffentlicht in: | J Pediatr Genet |
|---|---|
| Hauptverfasser: | , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Georg Thieme Verlag KG
2013
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| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020969/ https://ncbi.nlm.nih.gov/pubmed/27625852 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13058 |
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