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Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy
Gain of copy numbers can be due to different chromosomal rearrangements such as direct or indirect duplications, translocations, small supernumerary marker chromosomes, or insertions. In a 3-year-old boy with dysmorphic features and developmental delay, chromosome analyses revealed a derivative chro...
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| Udgivet i: | J Pediatr Genet |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Georg Thieme Verlag KG
2017
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| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5548530/ https://ncbi.nlm.nih.gov/pubmed/28794908 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1599195 |
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