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Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3).
A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented. Despite trisomy for a substantial portion of chromosome 21, the patient showed only minor stigmata compatible with Down syndrome. IMAGES:
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| Gepubliceerd in: | J Med Genet |
|---|---|
| Hoofdauteurs: | , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BMJ Publishing Group
1977
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013646/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/146741/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.14.6.459 |
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