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Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event
BACKGROUND: Partial monosomies of chromosome 16q are rare and overlapping effects from complex chromosomal rearrangements often hamper genotype-phenotype correlations for such imbalances. Here, we report the clinical features of an isolated partial monosomy 16q21q22.1 in a boy with a complex de novo...
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| Autors principals: | , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3737039/ https://ncbi.nlm.nih.gov/pubmed/23915422 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-6-29 |
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