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A patient with constitutional ring 1 chromosome characterized by SNP array CGH
We present a male patient with constitutional ring 1 chromosome and subsequent 6 Mb deletion at 1q43q44. The patient displays overlapping clinical features with reported patients with ring 1 chromosome and 1q43q44 microdeletion syndrome. To our knowledge, this is the first patient with ring 1 chromo...
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Publicado no: | Clin Case Rep |
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Main Authors: | , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
John Wiley and Sons Inc.
2016
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4831404/ https://ncbi.nlm.nih.gov/pubmed/27099748 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.522 |
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