Fig. 4

Deletion of FANCA gene in a patient with unclassified inherited bone marrow failure syndrome. a The raw data dispersion with 95% confidence intervals from patient 9 are shown. Totally, 98.30% of the read were within fitted interval. The purple dots on the left exhibit ratio of <0.05 and are clearly separated from the whole data and from the other reads of chromosome 16. b Gel electrophoresis shows the absence of amplified FANCA exon 2 and 5 in the patient compared to controls. In this experiment, FANCA exon 6 and RPL11 exon 2 were used as internal controls. c The panel shows the results of band densitometry from the gel electrophoresis.