11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation
Abstract Background We describe a 13‐year‐old girl with a 11q13.3q13.4 deletion encompassing the SHANK2 gene and a 9q21.13q21.33 duplication. She presented with pre‐ and postnatal growth retardation, global developmental delay, severe language delay, cardiac abnormalities, and dysmorphisms. Her mate...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Jezik: | English |
| Izdano: |
Wiley
2023-10-01
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| Serija: | Molecular Genetics & Genomic Medicine |
| Teme: | |
| Online dostop: | https://doi.org/10.1002/mgg3.2248 |