Fig. 3

Histopathology and genotyping data of the two non-molar miscarriages from patient 4. Microphotograhs of hematoxilin and eosin-stained sections of the 1st (a) and 2nd (b) product of conception (POC) showing that chorionic villi (some of which are indicated by “CV”) lack trophoblastic proliferation. c and d Microphotographs of p57KIP2 immunostaining on the 1st (c) and 2nd (d) product of conception showing negative staining of the cytotrophoblast (arrows) and villous mesenchyme (asterisks) nuclei, in contrast to the positive staining of the endometrial nuclei (arrowheads), which serve as an internal positive control. e Deletion of the distal end of chromosome 11 is shown by the loss of the maternal allele (176-bp) in the 1st product of conception at TH01 marker located on 11p15. Marker D11S1983, located on 11q12.1, shows the presence of one maternal (232-bp) and one non-maternal (225-bp) alleles, demonstrating the diploid biparental origin of alleles at this locus in the 1st product of conception. f Combimatrix microarray results on the 1st product of conception demonstrating a duplication of 3.9-Mb on chromosome 4p16.3 and a deletion of 3.6-Mb on 11p15.5-p15.4