Due to the variable presentation of mosaic chromosomal abnormalities, cases such as this are needed to define the phenotypic spectrum. It also highlights the importance of chromosome analysis to identify structural abnormalities that result in aneuploidy.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077311 | PMC |
| http://dx.doi.org/10.1002/ccr3.4031 | DOI Listing |
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