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Atypical 22q11.2 Microduplication with “Typical” Signs and Overgrowth
The 22q11.2 microduplication syndrome shows variable phenotypes with reduced penetrance compared to the 22q11.2 deletion syndrome. We report a woman with overgrowth and macrocephaly, mild mental retardation, heart defect, kidney anomalies, and dysmorphic features. Array-CGH analysis revealed a 246-k...
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| Publicado no: | Cytogenet Genome Res |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8117256/ https://ncbi.nlm.nih.gov/pubmed/33472199 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000512486 |
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