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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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Bibliografski detalji
Izdano u:Clin Case Rep
Glavni autori: Saliganan, Sheila, Lee, Joanna, Wei, Sainan
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2016
Teme:
Online pristup: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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