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22q11.2 Microduplication: An Enigmatic Genetic Disorder
Microduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. Very few cases have been reported but the real incidence may be higher as the absence of obvious clinical signs makes diagnosis difficult. In the cases that are diagnosed, the phenotype is extremely variabl...
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| Published in: | J Pediatr Genet |
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| Main Author: | |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Georg Thieme Verlag KG
2018
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| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6087476/ https://ncbi.nlm.nih.gov/pubmed/30105124 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1655754 |
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