FIGURE 2.

The haplotypes of family members, polar bodies, and blastocysts in case 4. The yellow and green rectangles indicate the paternal haplotype, the blue rectangles indicate the maternal wild‐type haplotype, and the gray rectangles indicate the maternal disease‐causing haplotype with variant and the disease‐causing haplotype without variant. The black box indicates the deletion area. (a) The haplotypes of family members. The female was a neurofibromatosis patient resulting from a de novo deletion variant. The de novo deletion occurred on the patient's maternal chromosome. (b) The haplotypes of polar bodies. PB2 of embryo 1 was degraded. None of the polar bodies carried the deletion. (c) The haplotypes of blastocysts. None of the three blastocysts carried the deletion; the heterozygous STR signals in the NF1 gene of embryos 2 and 3 were direct evidence that these embryos did not carry the deletion variant. Embryo 1 was transferred. *embryos with disease‐causing haplotypes without variant; ET, embryo transplantation; PB, polar body.