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Characterization of two POCs from patient 636 heterozygous for one NLRP7 mutation illustrating the importance of using various approaches. A. The reproductive outcomes are shown by chronological order from left to right. B. Italicized genotypes are informative and display two paternal alleles. C. Summary of the FISH analysis with probes from five chromosomes on the two POCs from patient 636. D. Illustration of the two scenarios that may have led to the mosaicism in POC 730.
