Comparative genomic hybridization by array of a peripheral blood sample from a child with haemophilia B and partial hypopituitarism against a healthy control from an anonymous donor

Case report of a child with Haemophilia B (factor IX deficiency), partial hypopituitarism, subtle dysmorphism and mild developmental delay, where a 2.31Mb de novo deletion of Xq27.1-q27.2 was identified on array CGH investigations (using a sample from a healthy, annoymous donor as control). This contiguous deletion includes the genes F9 and SOX3 and therefore provides a cause for this patient's abnormal phenotype.