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Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings
BACKGROUND: 1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation, and variable but characteristic facial features determined by the size of the segment and the number of genes involved. However, patients with 1q43-q44 dupli...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883343/ https://www.ncbi.nlm.nih.gov/pubmed/29636822 http://dx.doi.org/10.1186/s13039-018-0371-7 |