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Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families
The phenotypic variability associated with 22q11.2 deletion syndrome (22q11.2DS) is well known. In the present study, the cases of three unrelated adult patients with chromosome 22q11.2DS and nearly normal features are described, along with their reproductive histories. Chromosomal analysis with flu...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4316895/ https://www.ncbi.nlm.nih.gov/pubmed/25667635 http://dx.doi.org/10.3892/etm.2015.2200 |