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4q27 deletion and 7q36.1 microduplication in a patient with multiple malformations and hearing loss: a case report
BACKGROUND: Chromosome deletions of the long arm of chromosome 4 in 4q syndrome are characterized by mild facial and digital dysmorphism, developmental delay, growth retardation, and skeletal and cardiac anomalies, which is regarded as an autism spectrum disorder. Moreover, some scarce reports indic...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055054/ https://www.ncbi.nlm.nih.gov/pubmed/32126996 http://dx.doi.org/10.1186/s12920-020-0697-y |