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Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay
Chromosomal copy number variants (CNVs) are an important cause of congenital malformations and mental retardation. This study reported a large Chinese pedigree (4-generation, 76 members) with mental retardation caused by chromosome microduplication/microdeletion. There were 10 affected individuals w...
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| Foilsithe in: | Mol Cytogenet |
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| Main Authors: | , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
BioMed Central
2021
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8268195/ https://ncbi.nlm.nih.gov/pubmed/34238319 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-021-00552-3 |
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