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Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome
The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Academy of Medical Sciences
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995236/ https://www.ncbi.nlm.nih.gov/pubmed/21165297 http://dx.doi.org/10.3346/jkms.2010.25.12.1798 |