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A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects
BACKGROUND: 22q11 deletion syndrome (22qDS) is caused by deletion of chromosome region 22q11.2. However, mosaic cases with 22q11.2 deletion syndrome (22q11.2DS) are rarely reported. METHODS: Chromosomal microarray analysis (CMA) and fluorescence in situ hybridization fluorescence in situ hybridizati...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687652/ https://www.ncbi.nlm.nih.gov/pubmed/31297990 http://dx.doi.org/10.1002/mgg3.847 |